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Genetic defect at root of some ALS, say researchers

Forms of Lou Gherig's disease caused by too much protein

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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