Wisdom of Life

Major Milestone in Multiple System Atrophy Research

Major Milestone in Multiple System Atrophy Research

June 18, 2013

The Japanese MSA research group led by Professor Shoji Tsuji have been working very hard for several years to identify the first MSA gene. Their new paper, published in the New England Journal of Medicine, highlights their discovery of Mutations in COQ2 in Familial and Sporadic Multiple-System Atrophy.

Multiple System Atrophy was historically thought to be non-genetic in origin, however someextremely rare families with the disease have now provided important clues to help researchers better understand the sporadic disease as well.

Professor Tsuji has provided these points in summary:

1. We identified a causative gene, COQ2, for familial MSA.
2. We, furthermore, found that a common variant and multiple rare variants of COQ2 are associated with sporadic MSA with high odds ratios.
3. Homozygous or compound heterozygous mutations of COQ2 are involved in familial MSA, while heterozygous mutations of COQ2 are associated with sporadic MSA.

As with the discovery of the first genes for rare hereditary forms of Parkinson’s Disease, this exciting finding is expected to trigger a major explosion in pathogenesis research to hopefully, and finally, uncover the underlying cause of Multiple System Atrophy.

Read the full text of the paper


(culled from: www.msaawareness.org)


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