Mutant COQ2 in multiple-system atrophy.
نویسندگان
چکیده
منابع مشابه
[Susceptibility gene in multiple system atrophy (MSA)].
To elucidate molecular bases of multiple system atrophy (MSA), we first focused on recently identified MSA multiplex families. Though linkage analyses followed by whole genome resequencing, we have identified a causative gene, COQ2, for MSA. We then conducted comprehensive nucleotide sequence analysis of COQ2 of sporadic MSA cases and controls, and found that functionally deleterious COQ2 varia...
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OBJECTIVE The aim of this study was to analyze the association between the variations of coenzyme Q2 4-hydroxybenzoate polyprenyltransferase gene (COQ2) and Japanese patients with multiple system atrophy (MSA). METHODS We investigated the genetic variations in exons 1, 2, 6, and 7 of the COQ2 gene in 133 Japanese patients with MSA and 200 controls and analyzed the association between the vari...
متن کامل4‐Hydroxybenzoic acid restores CoQ10 biosynthesis in human COQ2 deficiency
The clinical phenotypes of human CoQ10-deficiency caused by COQ2 mutations range from fatal neonatal disease to adult-onset multisystem atrophy. So far, treatment options for these diseases are unsatisfactory. Here, we demonstrate that supplementation of 4-hydroxybenzoic acid (4-HBA) fully restores endogenous CoQ10-biosynthesis in COQ2-deficient cell lines. This was accompanied by increased pro...
متن کاملAssociation Analysis of COQ2 Variant in Dementia and Essential Tremor
Objective. COQ2 mutations have been reported in Japanese multiple system atrophy (MSA) patients. We examined the role of COQ2 in patients with dementia and essential tremor (ET), two common neurodegenerative conditions. Materials & Methods. A total of 2064 subjects, including 560 patients with dementia, 466 patients with ET, and 1038 healthy controls, were included. Genotyping for the COQ2 V393...
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p25α/tubulin polymerization promoting protein (TPPP) is an oligodendroglial protein that plays crucial roles including myelination, and the stabilization of microtubules. In multiple system atrophy (MSA), TPPP is suggested to relocate from the myelin sheath to the oligodendroglial cell body, before the formation of glial cytoplasmic inclusions (GCIs), the pathologic hallmark of MSA. However, mu...
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ورودعنوان ژورنال:
- The New England journal of medicine
دوره 371 1 شماره
صفحات -
تاریخ انتشار 2014