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Your Health: Combatting Melas Syndrome

Your Health: Combatting Melas Syndrome
Published: May. 26, 2022 at 5:36 PM EDT
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LANSING, Mich. (WILX) - Melas Syndrome is an extremely rare genetic condition that impacts many systems in the body -- particularly the brain, nervous system and muscles.

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,” Dr. Fernando Scaglia. “They produce the energy, or ATP, that our cells and tissues use to carry out their tasks.”

But with Melas Syndrome, there’s a breakdown in that process that causes a range of symptoms.

“At the milder end of the spectrum, people may have, or patients may have short stature and then they will have hearing loss,” Scaglia said.

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 visual abnormalities -- usually beginning before age 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,” Scaglia said. “And both of them restored the production of nitric oxide.”

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.

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