Mutations in COQ2 linked to multiple-system atrophy

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

add to favorites email to friend print save as pdf

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 & ...

Recommended for you

Science of romantic relationships includes gene factor

4 hours ago

(Medical Xpress)—Adolescents worry about passing tests, winning games, lost phones, fractured bones—and whether or not they will ever really fall in love. Three Chinese researchers have focused on that ...

Stress reaction may be in your dad's DNA, study finds

Nov 21, 2014

Stress in this generation could mean resilience in the next, a new study suggests. Male mice subjected to unpredictable stressors produced offspring that showed more flexible coping strategies when under ...

More genetic clues found in a severe food allergy

Nov 21, 2014

Scientists have identified four new genes associated with the severe food allergy eosinophilic esophagitis (EoE). Because the genes appear to have roles in other allergic diseases and in inflammation, the ...

Brain-dwelling worm in UK man's head sequenced

Nov 20, 2014

For the first time, the genome of a rarely seen tapeworm has been sequenced. The genetic information of this invasive parasite, which lived for four years in a UK resident's brain, offers new opportunities ...

User 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.