NIH scientists discover a rare form of ALS in children associated with genes that help the body produce fat

NIH scientists discover a rare form of ALS in children associated with genes that help the body produce fat

• Researchers have discovered the cause of a rare genetic form of ALS that appears in children
• This condition is usually found in adults over the age of 50 and dies in 3 to 5 years.
• The unusual form is linked to a gene known as SPTLC1 that helps the body produce fat.
• The child’s condition can be prevented or alleviated using proteins that silence the activity of genes

Along Mansur Shaheen on the Dailymail.Com

Release: 11:00 EDT, May 31, 2021 | Has been updated: May 31, 2021 12:38 EDT

Scientists have discovered a unique genetic form of amyotrophic lateral sclerosis (ALS), a terminal disease that attacks children.

Researchers at the National Institutes of Health (NIH) and the University of Uniform Services have found that rare forms of ALS begin at a very young age and worsen more slowly than other common forms of illness.

In addition, it was linked to a gene known as SPTLC1 that is part of the body’s fat production.

The team discovered that silencing genes could be a strategy to combat the rare forms of ALS.

Researchers have found that at least 11 rare cases of ALS appear in children. They attribute these cases to a dysfunction of a gene called SPTLC1 caused by either genetics or mutations.

ALS is a motor neuron disease that causes patients to slowly lose control of their spontaneous muscle movements.

This condition is more common in men than in women and usually occurs over the age of 50. This caused problems when researchers began to discover the symptoms in young children.

Patients diagnosed with ALS usually die within the first 5 years due to the rapid degeneration of the body.

This condition is sometimes referred to as Lugeric’s disease, after a legendary baseball player who began suffering from this condition later in his playing career.

There are 12,000 to 15,000 Americans in this state.

What is Amyotrophic Lateral Sclerosis?

ALS is an acronym for amyotrophic lateral sclerosis.

Also known as motor neuron disease or Lugeric’s disease, after a US baseball player diagnosed in 1939 at the age of only 36.

The disease is a rare condition that gradually damages parts of the nervous system.

This happens when special nerve cells in the brain and spinal cord, called motor neurons, fail to function properly. This is known as neurodegeneration.

Life expectancy of about half of people with symptoms is three years after the onset of symptoms.

However, some people can live up to 10 years, and in rare situations even longer.

This condition, which is very rare, can affect adults of all ages, including teenagers.

It is usually diagnosed in people over the age of 40, but most people in this condition first develop symptoms in their 60s. It affects slightly more men than women.

Currently, there is no cure for motor neuron disease.

Treatment aims to make people feel comfortable and maintain the best possible quality of life.

It also seeks to compensate for the progressive loss of physical functions such as mobility, communication, swallowing, and breathing.

“ALS is paralyzed and often a fatal illness that usually affects middle-aged people,” said Dr. Carsten Bönnemann, principal investigator at NIH’s National Institute for Neurological Disorders and Stroke, in a statement.

“We have discovered that the genetic form of the disease can also threaten children.

“Our results show for the first time that ALS can be caused by changes in the way the body metabolizes lipids.

“We hope that these results will lead to the development of treatments that will help physicians recognize this new form of ALS and improve the lives of these children and young adults.

“We also hope that our results will provide new clues for understanding and treating other forms of illness.”

The researchers conducted a study of 11 patients who showed signs of this condition despite their young age.

The first patient in this study was a girl named Claudia Digregorio.

Digregorio needed a wheelchair to move and transplanted a tracheostomy tube to breathe.

She also showed many other symptoms of ALS.

When analyzing the DNA of patients like Digregorio, researchers noticed changes in the SPLTC1 gene.

In some patients, the genetic alteration was hereditary and originated from one of the patients.

Elsewhere, changes caused by mutations.

Scientists have discovered that a protein called ORMDL often stops the activity of the protein that causes this type of ALS in children, and with further research, it stops the progression of the patient’s condition. I believe I can find a way.

‘These preliminary results suggest that precise gene silencing strategies may be used to treat patients with this type of ALS. Dr. Bonnemann said.

“Our ultimate goal is to translate these ideas into effective treatments for patients who currently have no treatment options.”

The full study will be available at Nature Medicine on Monday.

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