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ATP13A2 mutations impair mitochondrial function in fibroblasts from patients with Kufor-Rakeb syndrome.

Neurobiology of aging - 1 Aug 2012

Grünewald Anne, Arns Björn, Seibler Philip, Rakovic Aleksandar, Münchau Alexander, Ramirez Alfredo, Sue Carolyn M, Klein Christine

Abstract excerpt

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...

Topics

Adult
Female
Fibroblasts
Humans
Male
Mitochondria
Mitochondrial Diseases
Mutation
Parkinsonian Disorders
Proton-Translocating ATPases

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PMID: 22296644
DOI: 10.1016/j.neurobiolaging.2011.12.035

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