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Early-onset Parkinson disease caused by a mutation in CHCHD2 and mitochondrial dysfunction
Univ Western Australia, Ctr Med Res, Nedlands, WA, Australia / Harry Perkins Inst Med Res, Nedlands, WA, Australia.
Univ Isfahan, Dept Genet, Esfahan, Iran.
Shahid Beheshti Univ Med Sci, Shohada Tajrish Neurosurg Ctr Excellence, Funct Neurosurg Res Ctr, Tehran, Iran.
Univ Western Australia, Ctr Med Res, Nedlands, WA, Australia / Harry Perkins Inst Med Res, Nedlands, WA, Australia.
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2018 (English)In: Neurology Genetics, ISSN 2376-7839, Vol. 4, no 5, article id e276Article in journal (Refereed) Published
Abstract [en]

Objective Our goal was to identify the gene(s) associated with an early-onset form of Parkinson disease (PD) and the molecular defects associated with this mutation. Methods We combined whole-exome sequencing and functional genomics to identify the genes associated with early-onset PD. We used fluorescence microscopy, cell, and mitochondrial biology measurements to identify the molecular defects resulting from the identified mutation. Results Here, we report an association of a homozygous variant in CHCHD2, encoding coiled-coil-helix-coiled-coil-helix domain containing protein 2, a mitochondrial protein of unknown function, with an early-onset form of PD in a 26-year-old Caucasian woman. The CHCHD2 mutation in PD patient fibroblasts causes fragmentation of the mitochondrial reticular morphology and results in reduced oxidative phosphorylation at complex I and complex IV. Although patient cells could maintain a proton motive force, reactive oxygen species production was increased, which correlated with an increased metabolic rate. Conclusions Our findings implicate CHCHD2 in the pathogenesis of recessive early-onset PD, expanding the repertoire of mitochondrial proteins that play a direct role in this disease.

Place, publisher, year, edition, pages
Wolters Kluwer, 2018. Vol. 4, no 5, article id e276
National Category
Clinical Medicine
Research subject
Translational Medicine TRIM
Identifiers
URN: urn:nbn:se:his:diva-16378DOI: 10.1212/NXG.0000000000000276ISI: 000447372900012PubMedID: 30338296OAI: oai:DiVA.org:his-16378DiVA, id: diva2:1262205
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CC BY-NC-ND 4.0

Available from: 2018-11-09 Created: 2018-11-09 Last updated: 2020-11-04Bibliographically approved

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Tajsharghi, Homa

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