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Early-onset Parkins...
Early-onset Parkinson disease caused by a mutation in CHCHD2 and mitochondrial dysfunction
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- Lee, Richard G. (author)
- Univ Western Australia, Ctr Med Res, Nedlands, WA, Australia / Harry Perkins Inst Med Res, Nedlands, WA, Australia
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- Sedghi, Maryam (author)
- Univ Isfahan, Dept Genet, Esfahan, Iran
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- Salari, Mehri (author)
- Shahid Beheshti Univ Med Sci, Shohada Tajrish Neurosurg Ctr Excellence, Funct Neurosurg Res Ctr, Tehran, Iran
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- Shearwood, Anne-Marie J. (author)
- Univ Western Australia, Ctr Med Res, Nedlands, WA, Australia / Harry Perkins Inst Med Res, Nedlands, WA, Australia
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- Stentenbach, Maike (author)
- Univ Western Australia, Ctr Med Res, Nedlands, WA, Australia / Harry Perkins Inst Med Res, Nedlands, WA, Australia
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- Kariminejad, Ariana (author)
- Kariminejad Najmabadi Pathol & Genet Ctr, Tehran, Iran
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- Goullee, Hayley (author)
- Univ Western Australia, Ctr Med Res, Nedlands, WA, Australia / Harry Perkins Inst Med Res, Nedlands, WA, Australia
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- Rackham, Oliver (author)
- Univ Western Australia, Ctr Med Res, Nedlands, WA, Australia / Harry Perkins Inst Med Res, Nedlands, WA, Australia / Univ Western Australia, Sch Mol Sci, Crawley, Australia
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- Laing, Nigel G. (author)
- Univ Western Australia, Ctr Med Res, Nedlands, WA, Australia / Harry Perkins Inst Med Res, Nedlands, WA, Australia / QEII Med Ctr, PathWest, Dept Diagnost Genom, Nedlands, WA, Australia
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- Tajsharghi, Homa (author)
- Högskolan i Skövde,Institutionen för hälsa och lärande,Forskningsspecialiseringen Hälsa och Lärande,Translationell medicin (TRIM), Translational Medicine
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- Filipovska, Aleksandra (author)
- Univ Western Australia, Ctr Med Res, Nedlands, WA, Australia / Harry Perkins Inst Med Res, Nedlands, WA, Australia / Univ Western Australia, Sch Mol Sci, Crawley, Australia
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(creator_code:org_t)
- Wolters Kluwer, 2018
- 2018
- English.
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In: Neurology Genetics. - : Wolters Kluwer. - 2376-7839. ; 4:5
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https://doi.org/10.1...
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https://his.diva-por... (primary) (Raw object)
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Abstract
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- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine (hsv//eng)
Keyword
- Translationell medicin TRIM
- Translational Medicine TRIM
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Lee, Richard G.
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Sedghi, Maryam
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Salari, Mehri
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Shearwood, Anne- ...
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Stentenbach, Mai ...
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Kariminejad, Ari ...
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show more...
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Goullee, Hayley
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Rackham, Oliver
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Laing, Nigel G.
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Tajsharghi, Homa
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Filipovska, Alek ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
- Articles in the publication
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Neurology Geneti ...
- By the university
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University of Skövde