DiversityNursing Blog

Written by David McNamee

www.medicalnewstoday.com 

A new, first-of-its-kind infographic published in the Centers for Disease Control and Prevention's Preventing Chronic Disease journal maps the most 'distinctive' causes of deaths across all states in the US.

The map presents 2001-10 data on causes of death within individual states that were statistically more significant than the national averages, drawn from the Centers for Disease Control and Prevention's (CDC) own "Underlying Cause of Death" file, which is accessible through the WONDER (Wide-ranging Online Data for Epidemiologic Research) website.

The largest number of deaths in the map from a single condition were the 37,292 deaths from atherosclerotic cardiovascular disease in Michigan. The fewest were 11 deaths from "acute and rapidly progressive nephritic and nephrotic syndrome" in Montana.

The numbers of death from discrete illnesses varied across states. For example, 15,000 HIV-related deaths were recorded in Florida during the study period, 679 deaths from tuberculosis in Texas, and 22 people died from syphilis in Louisiana.

The most distinctive causes of death in New York were from gonorrhea and chlamydia, and the state also had the highest number of deaths from infection of female reproductive organs - mostly as a result of untreated sexually transmitted diseases.

According to the researchers behind the map, some of the findings make "intuitive sense," such as the high numbers of death from influenza in northern states, or pneumoconiosis (black lung disease) in states where coal is mined. However, some of the other findings are less easily explained, such as the deaths from septicemia in New Jersey.

What are the strengths and limitations of the map?

The map only presents one distinctive cause of death for each state, all of which were significantly higher than the national rate. However, many other causes of death that were also significantly higher than national rates were not mapped.

Another limitation of the map is that it has a predisposition toward exhibiting rare causes of death. For instance, in 22 of the states, the total number of deaths mapped was under 100. 

"These limitations are characteristic of maps generally and are why these maps are best regarded as snapshots and not comprehensive statistical summaries," explain the researchers, Francis P. Boscoe, of the New York State Cancer Registry, and Eva Pradhan, of the New York State Department of Health.

Boscoe and Pradhan say that the map has been "a robust conversation starter" - generating hypotheses that they consider would not have occurred had the data been formatted in "an equivalent tabular representation." They add:

"Although chronic disease prevention efforts should continue to emphasize the most common conditions, an outlier map such as this one should also be of interest to public health professionals, particularly insofar as it highlights nonstandard cause-of-death certification practices within and between states that can potentially be addressed through education and training."

Written by James McIntosh

www.medicalnewstoday.com 

Obesity is a serious public health problem in the US and can affect anyone regardless of age. In particular, childhood obesity prevalence remains high. As well as compromising a child's immediate health, obesity can also negatively influence long-term health dramatically. Unfortunately, some racial and ethnic groups are affected by obesity much more than others.

For example, the US Department of Health and Human Services Office of Minority Health (OMH) report that African-American women have the highest rates of being overweight or obese, compared with other racial or ethnic groups in the US.

Approximately 4 out of 5 African-African women were found to be overweight or obese and, in 2011, African-American women were 80% more likely to be obese than non-Hispanic white women.

Researchers have identified that disparities in obesity prevalence can be found just as readily among children as among adults. It is alarming that these disparities exist to begin with, but more so that they exist so early in life for so many.

In this Spotlight feature, we take a brief look at the prevalence of childhood obesity in the US and the disparities in childhood obesity prevalence that exist among different racial and ethnic groups. We will examine what factors may contribute to this disparity and what action can be taken to remedy the situation.

A growing problem

"Obesity is the terror within," states Dr. Richard Carmona, the former Surgeon General. "Unless we do something about it, the magnitude of the dilemma will dwarf 9-11 or any other terrorist attempt."

These are strong words, but they illustrate the scope of the obesity problem. According to the Centers for Disease Control and Prevention (CDC), in 2009-2010, over a third (35.7%) of adults in the US were obese.

On average, childhood obesity in the US has not changed significantly since 2003-2004, and overall, approximately 17% of all children and adolescents aged 2-19 years are obese - a total of 12.7 million.

There are a number of immediate health problems that childhood obesity can lead to, including:

• Respiratory problems, such as asthma and sleep apnea
• High blood pressure and cholesterol
• Fatty liver disease
• Increased risk of psychological and social problems, such as discrimination and low self-esteem
• Joint problems
• Type 2 diabetes.

In the long term, obese children are much more likely to grow up to be obese as adults than children with healthy weights. Not only that, but the obesity experienced by these children is likely to be more severe, leading to further and more extreme health problems.

Significant disparities exist in obesity prevalence between different racial and ethnic groups. The CDC report the following obesity prevalence percentages among different youth demographics:

• Hispanic youth - 22.4%
• Non-Hispanic black youth - 20.2%
• Non-Hispanic white youth - 14.1%
• Non-Hispanic Asian youth - 8.6%.

From these figures taken from 2011-2012, we can see that levels of obesity among Hispanic and non-Hispanic black children and adolescents are significantly above average.

When the parameters are extended to include overweight children as well, the disparity persists. Around 38.9% of Hispanic youth and 32.5% of non-Hispanic black youth are either overweight or obese, compared with 28.5% of non-Hispanic white youth.

In 2008, Dr. Sonia Caprio, from the Yale University School of Medicine, CN, and colleagues wrote an article published in Diabetes Care in which they examined the influence of race, ethnicity and culture on childhood obesity, and what their implications were for prevention and treatment.

"Obesity in children is associated with severe impairments in quality of life," state the authors. "Although differences by race may exist in some domains, the strong negative effect is seen across all racial/ethnic groups and dwarfs any potential racial/ethnic differences."

However, if there are specific factors contributing to these disparities that can be addressed, the numbers involved suggest that attention should be paid to them. The long-term health of thousands of children in the US is at stake.

Socioeconomic factors

"Rarely is obesity in children caused by a medical condition," write the National Association for the Advancement of Colored People (NAACP) in their childhood obesity advocacy manual. "It occurs when more calories are eaten than calories burned."

The NAACP outline a number of factors that contribute to increases in childhood obesity, including:

• The development of neighborhoods that hinder or prevent outdoor physical activity
• Failure to adequately educate and influence families about good nutrition
• Ignored need for access to healthy foods within communities
• Limited physical activity in schools
• Promotion of a processed food culture.

The CDC report that childhood obesity among preschoolers is more prevalent in those who come from lower-income families. It is likely that this ties in with the disparity with obesity prevalence among different racial and ethnic groups.

"There are major racial differences in wealth at a given level of income," write Caprio, et al. "Whereas whites in the bottom quintile of income had some accumulated resources, African-Americans in the same income quintile had 400 times less or essentially none."

Fast food and processed food is widely available, low cost and nutritionally poor. For these reasons, they are often associated with rising obesity prevalence among children. According to Caprio, et al., lower-cost foods comprise a greater proportion of the diet of lower-income individuals.

If adults need to work long hours in order to make enough money to support their families, they may have a limited amount of time in which to prepare meals, leading them to choose fast food and convenient processed food over more healthy home-cooked meals.

Living in high-poverty areas can also mean that children have limited access to suitable outdoor spaces for exercise. If the street is the only option available to children in which to play, they or their parents may prefer them to stay inside in a safer environment.

Hispanic youth and non-Hispanic black youth are more likely to come from lower-income families than non-Hispanic white youth. According to The State of Obesity, white families earn $2 for every $1 earned by Hispanic or non-Hispanic black families.

Over 38% of African-American children aged below 18 and 23% of Latino families live below the poverty line. This statistic suggests that the effects of living with a low income that increase the risk of obesity may be felt much more by African-American and Latino families and their children.

Not only do these socioeconomic factors increase the risk of obesity among these demographic groups but equally obesity can compromise a family's economic standing.

The NAACP point out that families with obese children spend more money on clothing and medical care. Additionally, as obese and overweight girls frequently start puberty at a younger-than-average age, there is a possibility that their risk of adolescent pregnancy is also higher.

Cultural factors

Alongside these socioeconomic factors, a number of additional factors exist that may be linked to an increased prevalence of childhood obesity among Hispanic and non-Hispanic black youth.

The NAACP give one such example, stating that one component of body image is how a person believes others view them or accept their weight:

"This also poses unique challenges in African-American communities because of cultural norms that accept, uplift and at times reward individuals who are considered 'big-boned,' 'P-H-A-T, fat,' or thick.'"

Cultural norms such as these may lead to parents remaining satisfied with the weight of their children or even wanting them to be heavier, even if they are at an unhealthy weight. Other sociological studies have also suggested that among Hispanic families, women may prefer a thin figure for themselves but a larger one for their children, according to Caprio, et al.

As well as being influenced by socioeconomic status, the type of foods eaten by children can be influenced by the cultural traditions of their families.

"Food is both an expression of cultural identity and a means of preserving family and community unity," write Caprio, et al. "While consumption of traditional food with family may lower the risk of obesity in some children (e.g., Asians), it may increase the risk of obesity in other children (e.g., African-Americans)."

As mentioned earlier, the promotion of a processed food culture may be a contributing factor to childhood obesity. As fast food companies target specific audiences, favoring cultural forms associated with a particular race or ethnicity could increase children's risk of being exposed to aggressive marketing.

Caprio, et al., report that exposure to food-related television advertising - most frequently fast food advertising - was found to be 60% among African-American children.

The amount of television that is watched may contribute as well; one study conducted by the Kaiser Family Foundation observed that African-American children watched television for longer periods than non-Hispanic white children.

A number of these cultural factors are associated with socioeconomic factors. African-American children may be more likely to watch television for longer, for example, if they live in areas where opportunities for playing safely outside are limited.

What can be done?

This subject area is far too detailed to do justice to in an article of this size, but these brief observations suggest that there should be ways in which the disparity in childhood obesity between racial and ethnic groups can be addressed.

Having more safe spaces to walk, exercise and play in low-income areas would give children a better opportunity to get the exercise need to burn the required number of calories each day. Improving the availability of and access to healthy food would give families more options when it came to maintaining a healthy, balanced diet.

The NAACP state that low-income neighborhoods have half as many supermarkets as the wealthiest neighborhoods, suggesting that for many low-income families, accessing healthy food can be a challenge.

These problems are ones that would need to be solved by local government and businesses that have influence over the planning and development of public living spaces. 

Caprio, et al. propose that a "socioecological" framework should be adopted to guide the prevention of childhood obesity. Such a framework would involve viewing children "in the context of their families, communities, and cultures, emphasizing the relationships among environmental, biological and behavioral determinants of health."

This approach would require large-scale collaboration, involving peer support, the establishment of supportive social norms and both the private and public sector working together.

"For health care providers to have a meaningful interaction about energy intake and energy expenditure with children/families, providers should have training in cultural competency in order to understand the specific barriers patients face and the influence of culture and society on health behaviors," the authors suggest.

In order for this disparity to be adequately addressed, a lot of work will need to be done. Not only might certain cultural norms need to be altered, but most importantly, environments will need to be provided in which children will have the opportunity to live as healthy lives as possible.

U.S. health officials have hard numbers to back up their warnings that this season's flu shots are less than perfect: A new study finds the vaccine reduces your risk of needing medical care because of flu by only 23 percent.

Most years, flu vaccine effectiveness ranges from 10 percent to 60 percent, reported the U.S. Centers for Disease Control and Prevention.

Despite the reduced effectiveness of this season's flu shot, "vaccination is still important," said lead report author Brendan Flannery, an epidemiologist with the CDC.

"But there are ways of treating and preventing flu that are especially important this season," he added. 

These include early treatment with antiviral drugs and preventing the spread of flu by washing hands and covering coughs, he said. 

Twenty-three percent effectiveness means that there is some benefit -- a little less flu in the vaccinated group. Flu is usually more common among unvaccinated Americans, Flannery said, "but this year there is a lot of influenza both in people who are vaccinated and in people who are unvaccinated."

The findings are published in the Jan. 16 issue of the Morbidity and Mortality Weekly Report.

As of early January, the middle of flu season, flu was widespread in 46 states, and 26 children had died from complications of the infection, CDC figures show. 

The vaccine's reduced effectiveness highlights the need to treat serious flu quickly with antiviral drugs such as Tamiflu or Relenza, the CDC said. Ideally, treatment should start within 48 hours of symptoms appearing.

Spot shortages of these drugs have been reported, and the CDC said that people may have to contact several pharmacies to fill these prescriptions. However, it anticipates enough supply overall to meet the high demand. 

In flu seasons when the vaccine is well matched to the circulating H3N2 strains, effectiveness has been between 50 and 60 percent, the CDC said. This year, however, about 70 percent of the H3N2 virus seen has been different from the H3N2 strains in the vaccine, which explains its reduced effectiveness, Flannery said.

Flu viruses change constantly, and this new H3N2 virus did not appear until after the flu strains were chosen for inclusion in the current vaccine, he explained.

Vaccine effectiveness is also related to the health of those getting vaccinated. The vaccine works best in young, healthy people, and is less effective in those 65 and older, the report noted.

This year's shot is most effective -- 26 percent -- for children 6 months old through 17 years. Older people get less benefit -- just 12 percent for those 18 to 49 years and 14 percent for those 50 and older, the CDC said.

Although the vaccine is less reliable than in some years, the CDC still recommends that everyone 6 months and older get vaccinated. Vaccination can prevent some infections and reduce severe disease that can lead to hospitalization and death, the agency said. 

Also, the vaccine protects against three or four flu viruses, some of which may circulate later this season, Flannery said. 

Dr. Marc Siegel, a professor of medicine at NYU Langone Medical Center in New York City, agreed. As other flu strains included in the vaccine emerge later in the season, he predicted the vaccine's effectiveness will rise to about 40 percent. 

Flu activity so far this season has been similar to the 2012-2013 flu season, which was classified as a "moderately severe" flu, officials say. Siegel said that season "the vaccine's effectiveness was about 40 percent, so this is even worse." 

However, he agreed it's a good idea to get a flu shot. "Twenty-three percent is better than nothing, and there is no downside to getting the vaccine," Siegel said.

Source: www.nlm.nih.gov

By ALISON BRUZEK

The last thing on your mind while you're home from school for the holidays is avoiding a deadly disease.

But imagine catching a disease as a teenager — a disease so terrible that it takes not just months to recover, but requires sacrificing both your legs.

That's what happened to Amy Purdy at age 19, when she was diagnosed with bacterial meningitis. It affects only about 4,000 people a year in the United States, according to the Centers for Disease Control and Prevention, but more than 10 percent of those people die. Others, like Purdy, suffer devastating consequences, including hearing loss, brain damage, or the loss of limbs from bloodstream infection.

College students are especially vulnerable, because meningitis is spread by living in close quarters and sharing drinking and eating utensils, or kissing. (An outbreak at Princeton University in 2013 sped up approval a new vaccine for the meningitis B strain.)

That's why the CDC recommends meningitis vaccine for all teenagers, especially if they weren't vaccinated as preteens.

Purdy, now 35, went on to become a Paralympic snowboarding champion and contestant in Dancing with the Stars. She's got a new book, On My Own Two Feet: From Losing My Legs to Learning the Dance of Life, coming out Dec. 30. Shots spoke to her about her battle with the disease and people's misconceptions about meningitis. This is an edited version of the conversation.

Had you heard about meningitis before you became sick?

Of course I heard the name meningitis before. I recognized what it was, but I had no idea that I was at risk. And I have to say, my mom actually told me just about a year before I got sick about one of her friends' son's who battled this horrific disease that came out of nowhere. He ended up losing his legs and his kidneys. It was the exact same thing that I got a year later.

Do you know how you got meningitis?

We have no idea how I got it. I was at an age that's more at risk — I was 19 years old. However, I wasn't a college student. I didn't live in a college dorm. I really wasn't even around that environment. They do say that those who are in college dorms are slightly more at risk than the rest of the world. I don't know how I got it, I was incredibly healthy at the time, I was a massage therapist, I worked out every day, I really took care of myself. It's just this invisible killer that kind of comes out of nowhere.

How did you cope with this loss at such a young age?

For me, it was life-changing. I nearly died multiple times in the hospital. I lost my legs, I lost my spleen, I lost my kidney function. I lost the life that I knew. And going through so much in such a small amount of time and so quickly, for me it put my life into perspective. There were certain things I focused on — I focused on how grateful I was for the things I had versus things I lost. I got a second chance at life and I wanted to use it. I didn't want to waste it by dwelling on what happened or why it happened.

One of the ironies is that those losses actually led to a lot of great things, like Dancing With the Stars and the Paralympics.

Definitely. The way I look at it is, we all have disabilities. We all have things that limit us and that challenge us. But really, our real limitations are the ones we believe. And I, from the beginning, believed that I could accomplish my goals and accomplish my dreams and I set out to do that. I'm very grateful that I've had the opportunities I've had.

A new vaccine for meningitis B was approved this fall, and you're now working with the manufacturer, Pfizer, to promote it. How did that happen?

Pfizer's actually teamed up with my nonprofit organization, which is called Adaptive Action Sports. I cofounded this organization in 2005 to help people with physical disabilities get involved in action sports, go snowboarding, skateboarding. Obviously, they want to get the word out there that there's protection against this bacteria.

I'm really proud to be a part of this campaign, though. You hear about rare diseases and weird things happening to people on Oprah and Dateline and you just never think it's going to happen to you. And then come to find out you actually could've protected yourself against it. To me it seems like a no-brainer.

What do you want parents to ask their teen's doctor about meningitis?

The number one question is, "Do you carry the meningococcal meningitis vaccination?" I feel like if parents could vaccinate their kids against car accidents, they would. This is one of those things where there are ways to help protect your kid against this.

Source: www.npr.org

By DENNIS THOMPSON

Chickenpox befell Angelina Jolie this week, preventing the actress-turned-director from attending the premiere of her new film.

Meanwhile, an outbreak of mumps has hit the National Hockey League, sidelining more than a dozen players and two referees.

These are considered kids' diseases. Most adults have vivid, fretful childhood memories of standing in line to get vaccinations that they expected to provide lifetime protection.

Why, then, are these prominent adults -- and scores of others -- coming down with these infections?

Mainly, it comes down to two factors, experts say.

Vaccination rates have declined among children in some parts of the United States, increasing everyone's risk of exposure to virulent diseases like chickenpox, measles, mumps and whooping cough, said Dr. Aaron Glatt, a spokesman for the Infectious Diseases Society of America.

"These vaccines are not perfect," said Glatt, who's also executive vice president of Mercy Medical Center in Rockville Centre, N.Y. "If you don't have a perfect vaccine and you couple that with a less-than-ideal number of people getting it, then if one person gets it then it's more likely to spread to others."

On top of that, even adults who got their shots as kids are at risk of contracting these diseases once exposed to them, because the protection provided by childhood vaccinations can fade over time.

"You can be vaccinated for something and have antibodies that wane over time or disappear entirely," said Dr. Len Horovitz, an internist and lung specialist at Lenox Hill Hospital in New York City. "You can have intermittent immunity, or no immunity."

America's public health defense against infectious diseases is built on a concept called "herd immunity," Glatt explained. If enough people are vaccinated against diseases like chickenpox, influenza, mumps and whooping cough, then even those who aren't vaccinated benefit because those who are immune can't spread the disease.

Skepticism over the effectiveness and safety of vaccines has caused vaccine rates to decline in some parts of the country, Horovitz and Glatt said. In those locations, adults with waning or imperfect immunity could fall prey to childhood infectious diseases, particularly if there's an outbreak.

"There is less vaccination going on than there was previously," Glatt said. "These childhood diseases have not gone away, and there is a strong anti-vaccine lobby that plays a role in people's decision to have their children vaccinated."

Since the early 1980s, there has been an overall increasing trend of whooping cough in the United States, said Angela Jiles, a spokeswoman for the federal Centers for Disease Control and Prevention.

Between Jan. 1 and Aug. 16 of this year, the CDC received reports of 17,325 cases of whooping cough, a 30 percent increase from the same time period in 2013 and the most cases seen in six decades, Jiles said.

California is experiencing its worst outbreak of whooping cough in seven decades.

There also have been more reported mumps cases in the United States this year, due to some larger outbreaks, according to the CDC. A reported 1,078 people have contracted mumps in 2014, compared with 438 the year before. In 2006 -- the worst year in recent history -- there were 6,584 cases of mumps, largely due to outbreaks on college campuses, according to the CDC.

No one has said how Jolie might have contracted chickenpox, but many of the NHL players appear to have gotten mumps from each other, despite efforts by the hockey league to get players vaccinated.

A single dose of mumps vaccine is about 80 percent effective, and two doses is about 90 percent effective, Amy Parker Fiebelkorn, an epidemiologist with the CDC's measles, mumps, rubella and polio team, told The New York Times.

"There is no vaccine that's 100 percent effective," Fiebelkorn said. "There is some margin for fully vaccinated individuals to still be infected with mumps if they're exposed to the virus."

Unfortunately, adults who contract these diseases are in for a rougher ride than children. They are more likely to develop serious complications, and are at higher risk of death, Glatt and Horovitz said.

These viruses also can increase a person's risk of future illness. For example, chickenpox patients like Jolie have a lifetime risk of shingles, a disease that can cause terrible rashes and intense nerve pain. The chickenpox virus hides in deep reservoirs inside the human body, and then emerges later in life to cause shingles.

Concerned adults can ask their doctor for a blood test that will check their antibodies and see if they remain immune to these infectious diseases, Horovitz said.

"It's something that could be done in the course of your annual exam. It takes no more than an extra tube or two of blood," the same as regular checks for blood sugar and cholesterol, he said. "It would be particularly important for people with chronic medical conditions or who do a lot of foreign travel where these diseases are running rampant."

People also can talk with their doctor about vaccinations that are recommended for adults. For example, the CDC recommends that adults get a booster shot every 10 years for tetanus, diphtheria and whooping cough, as well as an annual flu shot.

Source: www.cbsnews.com

U.S. health officials are poised to endorse circumcision as a means of preventing HIV and other sexually transmitted diseases.

The U.S. Centers for Disease Control and Prevention on Tuesday released its first-ever draft guidelines on circumcision that recommend that doctors counsel parents and uncircumcised males on the health benefits of the procedure.

The guidelines do not outright call for circumcision of all male newborns, since that is a personal decision that may involve religious or cultural preferences, Dr. Jonathan Mermin, director of the CDC's National Center for HIV/AIDS, Viral Hepatitis, STD and TB Prevention, told the Associated Press.

Discussion board is open for inputs on this subject.

But "the scientific evidence is clear that the benefits outweigh the risks," Mermin said.

Circumcision involves the surgical removal of the foreskin covering the tip of the penis. Germs can collect and multiply under the foreskin, creating issues of hygiene.

Clinical trials, many done in sub-Saharan Africa, have demonstrated that circumcision reduces HIV infection risk by 50 percent to 60 percent, the CDC guidelines note. The procedure also reduces by 30 percent the risk of contracting herpes and human papilloma virus (HPV), two pathogens believed to cause cancer of the penis.

The guidelines do point out that circumcision has only been proven to prevent HIV and sexually transmitted diseases in men during vaginal sex. The procedure has not been proven to reduce the risk of infection through oral or anal sex, or to reduce the risk of HIV transmission to female partners.

The scientific evidence is mixed regarding homosexual sex, the guidelines say, with some studies having shown that circumcision provides partial protection while other studies have not.

Circumcision does reduce the risk of urinary tract infections in infants, according to the CDC guidelines.

The most common risks associated with the procedure include bleeding and infection.

Male circumcision rates in the United States declined between 1979 and 2010, dropping from almost 65 percent to slightly more than 58 percent, according to a CDC report issued last year.

The new draft guidelines mirror an updated policy on circumcision released by the American Academy of Pediatrics in 2012.

"The American public should take confidence that these are pretty much converging guidelines. There is no doubt that it [circumcision] does confer health benefits and there is no doubt it can be performed safely, with a less than 1 percent risk of complications," Dr. Susan Blank, chair of the task force that authored the AAP policy statement, said Tuesday. "This is one thing a parent can do to protect the future health of their children."

In its policy statement, the AAP declared that the health benefits are great enough that infant male circumcision should be covered by insurance, which would increase access to the procedure for families who choose it, said Blank, who is also assistant commissioner of STD Control and Prevention at the New York City Department of Health and Mental Hygiene.

"The push from the academy's point of view is to really have providers lay out for parents what are the risks, what are the benefits, and give the parents the information they need to make a decision," Blank said. "And the academy feels strongly that since there are proven health benefits, the procedure should be covered by insurance."

The guidelines are expected to spur a response from anti-circumcision groups.

"There are certainly groups that are troubled by circumcision of an individual who is not in a position to provide their own consent," Blank said.

The public can comment on the draft guidelines through Jan. 16, according to the CDC.

Source: www.nlm.nih.gov

By Marie Ellis

Amyotrophic lateral sclerosis - also known as Lou Gehrig's disease - is a condition that gradually attacks nerve cells that control our voluntary movement, leading to paralysis and death. In the US, a reported 30,000 individuals are living with the disease, but now, scientists have identified a fault in protein formation, which could be the origin of this condition.

The researchers, from the University of Wisconsin-Madison, have published their study on amyotrophic lateral sclerosis (ALS) in the journal Cell Stem Cell.

According to the Centers for Disease Control and Prevention (CDC), nobody knows for sure why ALS occurs, and there is currently no cure.

The researchers of this latest study, led by Su-Chun Zhang, senior author and neuroscientist at UW-Madison, say previously, a genetic mutation was discovered in a small group of patients with ALS, prompting scientists to transfer that gene to animals for drug treatment testing. 

However, this approach has not yet worked. As such, Zhang and his team decided to study diseased human cells - called motor neurons - in lab dishes. These motor neurons are what direct muscles to contract, and Zhang explains this is where failures occur in ALS.

Discovery centers on faulty proteins inside motor neurons

Zhang was the first scientist to ever grow motor neurons from human embryonic stem cells around 10 years ago, and he has recently been transforming skin cells into induced pluripotent stem (iPS) cells, which are then transformed into motor neurons.

He explains that the iPS cells can be used as models for disease since they have many of the same characteristics as their donor cells.

"With iPS, you can take a cell from any patient, and grow up motor neurons that have ALS," Zhang explains. "That offers a new way to look at the basic disease pathology."

For their latest study, the researchers have focused on proteins that erect a transport structure - called a neurofilament - inside the motor neurons.

They say the neurofilament moves chemicals and cellular parts - including neurotransmitters - to far sides of the nerve cell. 

Zhang explains that the motor neurons, for example, that control foot muscles are around 3 ft long, so they need to be moved a whole yard from the cell body to the spot where they can signal the muscles.

As such, one of the first signs of ALS in a patient who lacks this connection is paralysis of the feet and legs.

'Findings have implications for other neurodegenerative disorders'

Before now, scientists have understood that with ALS, so-called tangles - misshapen protein - along the nerve's paths block the route along the nerve fibers, which eventually results in the nerve fiber malfunctioning and dying.

The team's recent discovery, however, has to do with the source of these tangles, which lies in a shortage of one of three proteins in the neurofilament.

Zhang explains that the neurofilament plays both a structural and a functional role:

"Like the studs, joists and rafters of a house, the neurofilament is the backbone of the cell, but it's constantly changing. These proteins need to be shipped from the cell body, where they are produced, to the most distant part, and then be shipped back for recycling.

If the proteins cannot form correctly and be transported easily, they form tangles that cause a cascade of problems."

He says their discovery is that the origin of ALS is "misregulation of one step in the production of the neurofilament."

Additionally, he notes that similar tangles crop up with Alzheimer's and Parkinson's diseases: "We got really excited at the idea that when you study ALS, you may be looking at the root of many neurodegenerative disorders."

Zhang and his team also observed that this misregulation happens very early, which is why it is highly likely that what they found is the origin ALS.

"Nobody knew this before, but we think if you can target this early step in pathology, you can potentially rescue the nerve cell," he says.

And as if this discovery is not exciting enough, the team also found a way to rescue the neural cells in the lab dishes, and when they "edited" the gene that orchestrates formation of the blundered protein, they found that the cells suddenly looked normal.

They report that they are currently testing a wide range of potential drugs, which brings hope to the domain of ALS research.

The CDC have a National ALS Registry, where patients with the condition can complete brief risk-factor surveys to help scientists defeat ALS.

Source: www.medicalnewstoday.com