MELAS: Stopping the stroke-like syndrome

Published: Aug. 12, 2022 at 4:37 AM CDT
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HOUSTON, Texas (Ivanhoe Newswire) – MELAS syndrome is an extremely rare genetic condition that affects many systems in the body, particularly the brain, nervous system, and muscles. Symptoms usually begin in childhood but can start at any age. Now, a clinical trial is underway to prevent one of the most common symptoms that begin in adulthood.

“Mitochondria are the energy factories of the cells. They produce the energy, or ATP, that our cells and tissues use to carry out their tasks,” explains Dr. Fernando Scaglia, professor in the Department of Molecular and Human Genetics at the Baylor College of Medicine and Texas Children’s Hospital.

But with MELAS syndrome, there’s a breakdown in that process, causing a range of symptoms.

Dr. Scaglia further explains, “At the milder end of the spectrum, patients may have short stature and then, they will have hearing loss.”

Common early symptoms include muscle weakness and pain, recurrent headaches, loss of appetite, vomiting, and seizures. Most patients with MELAS syndrome begin experiencing stroke-like episodes, where there’s temporary muscle weakness on one side of the body, altered consciousness, and vision abnormalities, beginning between the ages of 20 and 40. Previous studies show that a lack of the compound nitric oxide may be the reason behind these strokes. But researchers have found one protein that may restore the compound.

“Two building blocks of proteins, two amino acids, arginine and citrulline. Both of them restored the production of nitric oxide,” Dr. Scaglia mentions.

So far, researchers have found citrulline was more effective at repairing those levels and are now conducting a trial to see what is the safest maximum dose that can benefit patients and reduce their risk for stroke-like symptoms.

During the phase one safety study, participants will be required to take oral citrulline for a month and will be followed for an additional month after treatment.

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