Mutations in COQ2 linked to multiple-system atrophy

June 13, 2013
Mutations in <i>COQ2</i> linked to multiple-system atrophy
Functionally impaired variants in the COQ2 gene, which encodes the enzyme parahydroxybenzoate-polyprenyl transferase, have been identified in multiplex families with multiple-system atrophy and in patients with sporadic disease, according to a study published online June 12 in the New England Journal of Medicine.

(HealthDay)—Functionally impaired variants in the COQ2 gene, which encodes the enzyme parahydroxybenzoate-polyprenyl transferase, have been identified in multiplex families with multiple-system atrophy and in patients with sporadic disease, according to a study published online June 12 in the New England Journal of Medicine.

Jun Mitsui, M.D., Ph.D., from the University of Tokyo, and colleagues performed whole-genome sequencing of a sample obtained from a member of a multiplex family with multiple-system atrophy. Mutational analysis was also performed on samples from members of five other families, and from three patient series (Japanese, European, and North American). of parahydroxybenzoate-polyprenyl transferase was measured.

In two multiplex families, the researchers identified a homozygous mutation (M78V-V343A/M78V-V343A) and compound heterozygous (R337X/V343A) in COQ2. A common variant (V343A) and multiple rare variants were also identified in COQ2, all of which were functionally impaired and were linked with sporadic multiple-system atrophy. The variant V343A was only seen in the Japanese series.

"Functionally impaired variants of COQ2 were associated with an increased risk of multiple-system atrophy in multiplex families and patients with sporadic disease, providing evidence of a role [for] impaired COQ2 activities in the of this disease," the authors write.

More information: Abstract
Full Text

Related Stories

Strong genetic component of fibromyalgia suggested

May 11, 2013

(HealthDay)—A genome-wide linkage scan has identified the chromosome 17p11.2-q11.2 region as the susceptibility locus for fibromyalgia, according to research published in the April issue of Arthritis & Rheumatism.

Recommended for you

Blocking a gene reduces fat

July 29, 2015

By blocking the expression of a certain gene in patients, University of Montreal researchers have contributed to the demonstration of great decreases in the concentration of triglycerides in their blood, even in various severe ...

Study identifies 'major player' in skin cancer genes

July 27, 2015

A multidisciplinary team at Yale, led by Yale Cancer Center members, has defined a subgroup of genetic mutations that are present in a significant number of melanoma skin cancer cases. Their findings shed light on an important ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.