The Mystery of Why Some People End Up ELA | Saud

In early August, the world learned of the death of professional photographer Brian Randall. He was paired with actress Sandra Bullock, who appeared to move while painting portraits at a family party.

Three years ago, at the age of 54, he was unfortunately diagnosed with amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig, the name of the American baseball player who developed the disease in 1939.

In recent years, we have been able to accompany various victims of ELA heard by the public, including young people who do not suffer from other health problems. Likewise, the mystery of the possible causes of amyotrophic lateral sclerosis remains unsolved.

The most recent studies have revealed some signs. Will we finally be able to decipher the true causes of this destructive condition?

ELA is a form of motor neuron science. It is a painful and debilitating condition that causes people to gradually lose their motor neurons, the cells that control voluntary muscle movements. Thus, patients gradually lose control over their body.

According to a recent analysis of available data, this disease affects five out of every 100 million people in our United States.

It is more common in home settings and is diagnosed before the average age of 60 years. But it can also have a significant impact on young people.

Most people live only a few years after diagnosis, but there are some notable exceptions. One of the British physicists Stephen Hawking, who was diagnosed with a form of motor neuron damage at age 21 and died in 2018 at the age of 76.

Here are the reasons why we ask people to unravel these difficult questions. For 10-15% of people suffer from this disease because it is familiar. In these cases, a mutation in a particular gene can be passed on from generation to generation.

You don’t know for sure whether it will turn into a story if two of your parents or your ancestors suffer from ELA, but there may be stories in your family about people affected by the first or ancestors who also had the devastating disease. story.

It happens that when someone develops a heredity, the affected gene is not always the same, as long as the consequences are the same. And then there are 85-90% of people who develop a non-hereditary form of ELA – for them it is even more difficult to identify the cause.

When a person is diagnosed with ELA and family members say something like, “I’ve had something like this before,” the case is considered a unique, random, or “extraordinary” event.

Recent research suggests that genetic mutations may be one cause. But they turned out to be due to small mutations in a few different genes, rather than dramatic and obviously observable biological errors in the ELA family.

We have identified changes in more than 40 genes that increase the risk of developing ELA, but the condition is extremely rare.

The list of genes that can be affected is quite long, but four of these genes are the most common.

A common gene is C9orf72, which is associated with the regulation of muscle and nerve cells. This genetic change is found in 30% of ELA cases.

In 20% of cases, the SOD1 gene, encoding an antioxidant enzyme that protects cells from damage, is partially present. A smaller percentage corresponds to changes in the TARDBP (4%) and FUS (5%) genes. These two genes encode important factors involved in the production of proteins inside the cell.

According to neuroscience professor Eva Feldman from the University of Michigan, US, depending on the type of ELA, “ranging from 8% to 60% could be explained by genetic factors.”

In addition, there is emerging evidence that repeated and prolonged exposure to potentially desensitizing environmental factors may increase the risk of ELA desensitization, especially in its sporadic form. And it’s these discoveries that are driving Feldman and his colleagues to fish more.

“We’re concerned about the existence of what we call ‘exposure’ to ELA, which is equivalent to environmental toxicity, which increases our risk,” Feldman explains.

The team found that long-term exposure to organic chemical pollutants, chemicals, pesticides, particulate matter from civil engineering and higher quality work may contribute to an increased risk of amyotrophic lateral sclerosis.

North American ALS Association director Neel Thakur says there is no absolute cause and effect for ELA.

“It’s always a combination of factors,” he said. “Even if you want to have a risk factor or a genetic risk, there is no 100% certainty that you will suffer from ELA.”

But Thakur notes that there is evidence that exposure to diesel particulate matter, jet fuel and fog, as well as pesticides and air pollution, can increase the risk of ELA failure.

He argues, for example, that soldiers are highly exposed to these materials and appear to be more likely to do so.

There is also evidence that the presence of chumbo in water, smoking and contact sports can cause amyotrophic lateral sclerosis. But we still have many uncertainties.

Research into the effects of drinking alcohol and cigars over a lifetime before being diagnosed with ELA suggests that quitting smoking entirely does not necessarily protect you from the risk – but it is clear that these factors influence the risk of developing other diseases, and there are several reasons to cut down on smoking and alcohol consumption.

One of the difficulties faced by doctors and scientists interested in the causes of ELA (and general motor neuron problems) is that they are fortunately rare.

Even with a small number of patients, not all of them are willing to participate or participate in fish tests. And there are many genetic and lifestyle differences that can affect the results.

Even if genetic changes are found in, say, 4% of cases, there may not be enough people in that group to see clear differences between those who were exposed to a particular chemical solvent or not.

“It takes a long time to recruit enough people for a clinical ELA test, then the clinician progresses very quickly and patients can participate in the initial phase of the test,” explains Thakur. “If you want ELA in your family and you have the ELA gene, you can see if you can take two courses or if you need help with your voice and others.”

Feldman says studying the combination of genetic and environmental factors “is a challenge” for his research group. We suspect that countless genes—tens, sometimes even hundreds—may contribute to what they call the “polygenic risk profile” of ELA.

This thread of risk, he said, is “additional to the traditional risk of isolated genes.” The team is now learning how they are taught polygenic risk and can interact with environmental factors to cause ELA.

Find good news here

There is currently no cure for amyotrophic lateral sclerosis. But the Food and Drug Administration (FDA) recommends various treatments that can help slow the rate at which the disease progresses and give people a little more time.

These drugs represent a number of mechanisms. This can reduce the entry of certain substances into the nerves in the brain and spinal cord and thereby prevent the death of nerve cells.

It also appears to be useful to target treatment to target the effects of a specific faulty gene. For example, a recent initial trial of a drug designed to combat the damage caused by the SOD1 mutation yielded promising preliminary results.

But knowing which genetic mutations may be responsible for diagnosing patients with ELA may not be of much comfort to people suffering from pain. Therefore, the ALS Association’s goal is to provide advice and guidance to those affected by the disease and their families.

“The ALS Association’s strategy is that you can live (with ELA) in a thermos as a medicine,” says Thakur.

The organization champions high quality standards by engaging healthcare professionals in a range of different trainings that can enable people to live more active lives within a few months under the guidance of its director. And the association also plans to publish recommendations on how to reduce the costs of possible factors contributing to ELA underdevelopment.

The biggest goal is to obtain funds to complete the necessary tasks.

To determine what role each gene or environmental risk factor may represent, a form of application or perhaps a suitable solution must be found.

“It’s not really about people suffering from ELA, it’s about what we can do to prevent or treat it,” says Thakur.

Regardless of the reasons, this process will continue progressively. Family and friends will indicate that they will respond with love and peace to any level of deterioration in the condition of their loved ones, just like Sandra Bullock.

With more scientific knowledge about this devastating condition, you can find better treatments every day and, you know, help you avoid more cases.

And good news, because it’s always good.

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