Lunedì, 24 Settembre 2018

Genetic defect at root of some ALS, say researchers


Rome, July 12 - Researchers at the Catholic
University of Rome (Università Cattolica di Roma) have isolated
a genetic defect to be at the root of some forms of Lou Gherig's
Disease, the syndrome otherwise known as amyotrophic lateral
sclerosis (ALS).
The disorder damages the neuromuscular system and often
hits sportsmen.
It was named after Henry Louis Gehrig, a famous US baseball
player who also played with the New York Yankees team during the
course of his career.
He developed ALS and died in 1941.
Researchers at the Rome-based university identified the
genetic mutation that causes the body to produce excessive
quantities of a protein called Fus, which then accumulates in
the person's neurons and causes them to degenerate.
The findings by the team headed by Mario Sabatelli, who
coordinates the ALS center at Rome's Policlinico Gemelli
hospital and by Marcella Zollino of the Genetic Medicine
Institute of the university have been published in the Human
Molecular Genetics magazine.
It is the first time medical scientists have linked
excessive quantities of protein produced by the body to ALS.

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