Journal article
CHCHD10 is involved in the development of Parkinson's disease caused by CHCHD2 loss-of-function mutation p.T61I
Neurobiology of aging, v 75, pp 38-41
01 Mar 2019
PMID: 30530185
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
Previously we identified the p.Thr61Ile mutation in coiled-coil-helix-coiled-coil-helix domain containing 2 (CHCHD2) in a Chinese family with autosomal dominant Parkinson's disease. But the mechanism is still unclear. In this study, we explored the effects of CHCHD2 p.Thr61Ile mutation in cells and its association with coiled-coil-helix-coiled-coil-helix domain containing 10 (CHCHD10). We found that overexpression of Parkinson's disease–associated T61I mutant CHCHD2 did not produce mitochondrial dysfunction. Rather, its protective effect from stress was abrogated. And, the level of the CHCHD2 protein and mRNA in patient fibroblasts was not significantly different from control. In addition, CHCHD2 T61I mutation caused increased interaction with CHCHD10 and reduced CHCHD10 level. The mitochondrial ultrastructural alterations in CHCHD2 T61I mutant patient fibroblasts are similar to that of CHCHD10 mutations. We therefore propose that CHCHD10 is involved in the development of Parkinson's disease caused by CHCHD2 loss-of-function mutation p.T61I.
•CHCHD2 p.Thr61Ile mutation is associated with mitochondrial function.•Parkinson’s disease-associated CHCHD2 p.Thr61Ile is a loss-of-function mutation.•CHCHD10 is involved in the pathogenesis of CHCHD2 p.Thr61Ile mutation in Parkinson’s disease.
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Details
- Title
- CHCHD10 is involved in the development of Parkinson's disease caused by CHCHD2 loss-of-function mutation p.T61I
- Creators
- Chengyuan Mao - National Institute of Neurological Disorders and StrokeHerui Wang - National Cancer InstituteHaiyang Luo - First Affiliated Hospital of Zhengzhou UniversityShuyu Zhang - First Affiliated Hospital of Zhengzhou UniversityHuisha Xu - Zhengzhou UniversityShuo Zhang - First Affiliated Hospital of Zhengzhou UniversityJared Rosenblum - Brigham and Women's HospitalZhilei Wang - First Affiliated Hospital of Zhengzhou UniversityQi Zhang - Center for Cancer ResearchMibo Tang - First Affiliated Hospital of Zhengzhou UniversityMatthew J. Shepard - University of Virginia Health SystemXiang Wang - National Institute of Neurological Disorders and StrokeYaohe Wang - Zhengzhou UniversityZhengping Zhuang - Center for Cancer ResearchChanghe Shi - First Affiliated Hospital of Zhengzhou UniversityYuming Xu - First Affiliated Hospital of Zhengzhou University
- Publication Details
- Neurobiology of aging, v 75, pp 38-41
- Publisher
- Elsevier Inc
- Number of pages
- 4
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Neurology
- Web of Science ID
- WOS:000456537300004
- Scopus ID
- 2-s2.0-85057811531
- Other Identifier
- 991022154809804721
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- Collaboration types
- Domestic collaboration
- International collaboration
- Web of Science research areas
- Geriatrics & Gerontology
- Neurosciences