June 13, 2024

New Discoveries in Multiple System Atrophy Research Four Genetic Risk Factors Identified

In a groundbreaking study published in the esteemed journal Neuron, a team of international researchers, led by Dr. Sonja W. Scholz from the National Institute of Neurological Disorders and Stroke (NINDS), has identified four new genetic risk factors for Multiple System Atrophy (MSA). This discovery, which involved collaboration from over 50 institutions worldwide, including the Uniformed Services University of the Health Sciences (USU), represents a significant leap forward in understanding this enigmatic neurological condition.

MSA is an adult-onset, sporadic disorder characterized by an abnormal accumulation of α-synuclein protein, similar to Parkinson’s disease and Lewy body dementia. Despite its resemblance to these better-known conditions, MSA remains elusive due to its rarity and variable symptomatology.

To shed light on this poorly understood disorder, the research team amassed the largest whole Genome dataset for MSA to date, comprising 888 individuals of European ancestry with MSA. By contrasting their genomic variation with that of healthy controls, the team pinpointed four new risk loci for MSA and zeroed in on specific genes linked to heightened susceptibility to the condition.

The study’s findings were facilitated by the expertise of The American Genome Center at USU and other collaborators, who analyzed the entire genomes of individuals with MSA. This comprehensive approach allowed the team to delve deeper into the genetic underpinnings of this complex disorder, paving the way for future research and potential therapeutic interventions

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1. Source: Coherent Market Insights, Public sources, Desk research
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