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Article (Scientific journals)
ATP13A2 mutations impair mitochondrial function in fibroblasts from patients with Kufor-Rakeb syndrome.
GRÜNEWALD, Anne; Arns, Bjorn; Seibler, Philip et al.
2012In Neurobiology of Aging, 33 (8), p. 1843.e1-7
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Keywords :
Adult; Female; Fibroblasts/metabolism; Humans; Male; Mitochondria/genetics; Mitochondrial Diseases/genetics; Mutation/genetics; Parkinsonian Disorders/genetics; Proton-Translocating ATPases/genetics
Abstract :
[en] Mutations in ATP13A2 cause autosomal-recessive parkinsonism (Kufor-Rakeb syndrome; KRS). Because several other parkinsonism-associated proteins have been connected to mitochondrial function and mitophagy, we studied the impact of endogenous mutations in ATPase type 13A2 (ATP13A2) on mitochondria in fibroblasts from KRS patients compared with controls. In patients, we detected decreased adenosine triphosphate (ATP) synthesis rates, increased mitochondrial DNA levels, a higher frequency of mitochondrial DNA lesions, increased oxygen consumption rates, and increased fragmentation of the mitochondrial network. Importantly, overexpression of wild-type ATP13A2 rescued the respiration phenotype. These findings collectively suggest that ATP13A2 contributes to the maintenance of a healthy mitochondrial pool, supporting the hypothesis that impaired mitochondrial clearance represents an important pathogenic mechanism underlying KRS.
Disciplines :
Biochemistry, biophysics & molecular biology
Author, co-author :
GRÜNEWALD, Anne   
Arns, Bjorn 
Seibler, Philip
Rakovic, Aleksandar
Munchau, Alexander
Ramirez, Alfredo
Sue, Carolyn M.
KLEIN, Christine 
 These authors have contributed equally to this work.
External co-authors :
yes
Language :
English
Title :
ATP13A2 mutations impair mitochondrial function in fibroblasts from patients with Kufor-Rakeb syndrome.
Publication date :
2012
Journal title :
Neurobiology of Aging
ISSN :
1558-1497
Publisher :
Elsevier, Netherlands
Volume :
33
Issue :
8
Pages :
1843.e1-7
Peer reviewed :
Peer Reviewed verified by ORBi
Commentary :
Copyright (c) 2012 Elsevier Inc. All rights reserved.
Available on ORBilu :
since 09 February 2016

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