Mutation analysis of CHCHD2 gene in Chinese familial Parkinson's disease

Neurobiology of Aging

Volumn 36, Issue 11, 2015, Pages 3117.e7-3117.e8

  Liu, Zhenhua ^a   Guo, Jifeng ^a,b,c   Li, Kai ^a   Qin, Lixia ^a   Kang, Jifeng ^a   Shu, Li ^a   Zhang, Yuan ^a   Wei, Yang ^a   Yang, Nannan ^a   Luo, Yang ^a   Sun, Qiying ^a,c   Xu, Qian ^a,c   Yan, Xinxiang ^a,c   Tang, Beisha ^a,b,c  

^a CENTRAL SOUTH UNIVERSITY   (China)

^b State Key Laboratory of Medical Genetics   (China)

^c CENTRAL SOUTH UNIVERSITY   (China)

Author keywords

CHCHD2; Chinese; Familial PD; Mutation; Parkinson's disease

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHCHD2 GENE; CHINESE; DNA SEQUENCE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HUMAN; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; NEUROPATHOLOGY; PARKINSON DISEASE; PREVALENCE; PRIORITY JOURNAL; ASIAN CONTINENTAL ANCESTRY GROUP; COHORT ANALYSIS; DOMINANT GENE; GENETIC ASSOCIATION STUDY; GENETICS; MUTATION;

CHCHD2 PROTEIN, HUMAN; MITOCHONDRIAL PROTEIN; TRANSCRIPTION FACTOR;

ASIAN CONTINENTAL ANCESTRY GROUP; COHORT STUDIES; GENES, DOMINANT; GENETIC ASSOCIATION STUDIES; HUMANS; MITOCHONDRIAL PROTEINS; MUTATION; PARKINSON DISEASE; TRANSCRIPTION FACTORS;

EID: 84947031214     PISSN: 01974580     EISSN: 15581497     Source Type: Journal    
DOI: 10.1016/j.neurobiolaging.2015.08.010     Document Type: Article

References (11)

1. Aras S., Bai M., Lee I., Springett R., Huttemann M., Grossman L.I. MNRR1 (formerly CHCHD2) is a bi-organellar regulator of mitochondrial metabolism. Mitochondrion 2015, 20:43-51.
2. Aras S., Pak O., Sommer N., Finley R., Huttemann M., Weissmann N., Grossman L.I. Oxygen-dependent expression of cytochrome c oxidase subunit 4-2 gene expression is mediated by transcription factors RBPJ, CXXC5 and CHCHD2. Nucleic Acids Res. 2013, 41:2255-2266.
3. Foo J.N., Liu J., Tan E.-K. CHCHD2 and Parkinson's disease. Lancet Neurol. 2015, 14:681-682.
4. Funayama M., Ohe K., Amo T., Furuya N., Yamaguchi J., Saiki S., Li Y., Ogaki K., Ando M., Yoshino H., Tomiyama H., Nishioka K., Hasegawa K., Saiki H., Satake W., Mogushi K., Sasaki R., Kokubo Y., Kuzuhara S., Toda T., Mizuno Y., Uchiyama Y., Ohno K., Hattori N. CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study. Lancet Neurol. 2015, 14:274-282.
5. Hughes A.J., Daniel S.E., Kilford L., Lees A.J. Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases. J. Neurol. Neurosurg. Psychiatry 1992, 55:181-184.
6. Jansen I.E., Bras J.M., Lesage S., Schulte C., Gibbs J.R., Nalls M.A., Brice A., Wood N.W., Morris H., Hardy J.A., Singleton A.B., Gasser T., Heutink P., Sharma M. CHCHD2 and Parkinson's disease. Lancet Neurol. 2015, 14:678-679.
7. Liu Y., Clegg H.V., Leslie P.L., Di J., Tollini L.A., He Y., Kim T.H., Jin A., Graves L.M., Zheng J., Zhang Y. CHCHD2 inhibits apoptosis by interacting with Bcl-x L to regulate Bax activation. Cell Death Differ. 2015, 22:1035-1046.
8. Longen S., Bien M., Bihlmaier K., Kloeppel C., Kauff F., Hammermeister M., Westermann B., Herrmann J.M., Riemer J. Systematic analysis of the twin cx(9)c protein family. J. Mol. Biol. 2009, 393:356-368.
9. Trinh J., Farrer M. Advances in the genetics of Parkinson disease. Nat. Rev. Neurol. 2013, 9:445-454.
10. Wei Y., Vellanki R.N., Coyaud E., Ignatchenko V., Li L., Krieger J.R., Taylor P., Tong J., Pham N.A., Liu G., Raught B., Wouters B.G., Kislinger T., Tsao M.S., Moran M.F. CHCHD2 is co-amplified with EGFR in NSCLC and regulates mitochondrial function and cell migration. Mol. Cancer Res. 2015, 13:1119-1129.
11. Zhang Z.X., Roman G.C., Hong Z., Wu C.B., Qu Q.M., Huang J.B., Zhou B., Geng Z.P., Wu J.X., Wen H.B., Zhao H., Zahner G.E. Parkinson's disease in China: prevalence in Beijing, Xian, and Shanghai. Lancet 2005, 365:595-597.