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Elisa Rubino, Livia Brusa, Ming Zhang, Silvia Boschi, Flora Govone, Alessandro Vacca, Annalisa Gai, Lorenzo Pinessi, Leonardo Lopiano, Ekaterina Rogaeva, Innocenzo Rainero
In recent years, CHCHD2 and CHCHD10 mutations were reported to be associated with a broad spectrum of neurodegenerative diseases, including Parkinson's disease (PD), although with conflicting results in different populations. The present study aimed to evaluate CHCHD2 and CHCHD10 coding variants in Italian patients with PD. All the coding regions and flanking intronic splice sites of CHCHD2 and CHCHD10 were sequenced. None of our 119 PD cases carried CHCHD2 mutations, whereas 1 sporadic PD patient showed the Pro34Ser substitution in CHCHD10...
January 5, 2017: Neurobiology of Aging
Siddhesh Aras, Hassan Arrabi, Neeraja Purandare, Maik Hüttemann, John Kamholz, Stephan Züchner, Lawrence I Grossman
We previously showed that MNRR1 (Mitochondrial Nuclear Retrograde Regulator 1, also CHCHD2) functions in two subcellular compartments, displaying a different function in each. In the mitochondria it is a stress regulator of respiration that binds to cytochrome c oxidase (COX) whereas in the nucleus it is a transactivator of COX4I2 and other hypoxia-stimulated genes. We now show that binding of MNRR1 to COX is promoted by phosphorylation at tyrosine-99 and that this interaction stimulates respiration. We show that phosphorylation of MNRR1 takes place in mitochondria and is mediated by Abl2 kinase (ARG)...
February 2017: Biochimica et Biophysica Acta
Chao Gao, Yi-Meng Chen, Qian Sun, Ya-Chao He, Pei Huang, Tian Wang, Dun-Hui Li, Liang Liang, Jun Liu, Qin Xiao, Sheng-Di Chen
CHCHD2 is the latest identified Parkinson's disease (PD)-causing gene, and previous studies have reported the same CHCHD2 variant (182C>T, Thr61Ile) in both PD and essential tremor (ET) patients. Whether CHCHD2 gene mutations are involved in both of these diseases remains unclear. We sequenced CHCHD2 gene in 171 familial ET patients, 133 autosomal dominant Parkinson's disease patients, and 211 normal controls. No pathogenic mutations were found, suggesting that CHCHD2 gene may not play a major role in our familial Chinese Han ET and PD patients...
January 2017: Neurobiology of Aging
Lili Zhu, Aurora Gomez-Duran, Gabriele Saretzki, Shibo Jin, Katarzyna Tilgner, Dario Melguizo-Sanchis, Georgios Anyfantis, Jumana Al-Aama, Ludovic Vallier, Patrick Chinnery, Majlinda Lako, Lyle Armstrong
Human induced pluripotent stem cell (hiPSC) utility is limited by variations in the ability of these cells to undergo lineage-specific differentiation. We have undertaken a transcriptional comparison of human embryonic stem cell (hESC) lines and hiPSC lines and have shown that hiPSCs are inferior in their ability to undergo neuroectodermal differentiation. Among the differentially expressed candidates between hESCs and hiPSCs, we identified a mitochondrial protein, CHCHD2, whose expression seems to correlate with neuroectodermal differentiation potential of pluripotent stem cells...
October 24, 2016: Journal of Cell Biology
Hongwei Wu, Xingjiao Lu, Zhidong Cen, Fei Xie, Xiaosheng Zheng, You Chen, Wei Luo
Recently, Funayama et al. identified CHCHD2 as a novel causative gene of Parkinson disease (PD). However, the relationship between CHCHD2 and essential tremor (ET) patients was still unknown. Genetic analysis of CHCHD2 gene was conducted in 60 probands of ET families with autosomal dominant inheritance and 90 healthy controls in Chinese population. No pathogenic CHCHD2 mutation was found in ET patients. However, we identified one rare variant, c.5C>T, a reported risk variant for sporadic PD in Japanese populations, and examined the frequency of three common variants...
October 4, 2016: Neuroscience Letters
Zhi-Dong Zhou, Wuan-Ting Saw, Eng-King Tan
The coiled-coil-helix-coiled-coil-helix domain (CHCHD)-containing proteins are evolutionarily conserved nucleus-encoded small mitochondrial proteins with important functions. So far, nine members have been identified in this protein family. All CHCHD proteins have at least one functional coiled-coil-helix-coiled-coil-helix (CHCH) domain, which is stabilized by two pairs of disulfide bonds between two helices. CHCHD proteins have various important pathophysiological roles in mitochondria and other key cellular processes...
September 8, 2016: Molecular Neurobiology
Nan-Nan Li, Ling Wang, Eng-King Tan, Lan Cheng, Xiao-Yi Sun, Zhong-Jiao Lu, Jun-Ying Li, Jin-Hong Zhang, Rong Peng
Recently, mutations in the coiled-coil-helix-coiled-coil-helix domain containing 2 (CHCHD2) gene have been identified in Japanese families with autosomal dominant Parkinson's disease (PD) and two single nucleotide variants (rs10043 and Pro2Leu) increased risk of sporadic PD. The role of CHCHD2 in PD susceptibility in other Asian populations still remains to be clarified. In a large Chinese cohort from mainland China (31 familial PD patients, 1,027 sporadic PD patients, and 1,095 health controls), we examined the association of rs10043 and Pro2Leu variants in CHCHD2 with PD...
December 2016: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
Xinglong Yang, Ran An, Quanzhen Zhao, Jinhua Zheng, Sijia Tian, Yalan Chen, Yanming Xu
CHCHD2, which encodes a regulator of mitochondrial metabolism, has been linked to Parkinson's disease (PD) in a Japanese population. Since PD and two other neurodegenerative diseases, multiple system atrophy (MSA) and amyotrophic lateral sclerosis (ALS), are associated with mitochondrial dysfunction, we wanted to know whether CHCHD2 mutations may be linked to MSA and sporadic ALS in Chinese patients. All four CHCHD2 exons were Sanger-sequenced in 89 patients with MSA, 424 patients with sporadic ALS and 594 unrelated healthy Han Chinese...
September 15, 2016: Journal of the Neurological Sciences
Hongwei Wu, Xingjiao Lu, Fei Xie, Zhidong Cen, Xiaosheng Zheng, Wei Luo
CHCHD2 has been recently reported as a causative gene for autosomal dominant Parkinson disease (ADPD) in Japanese populations. Further genetic studies of CHCHD2 in other populations are needed. Herein, we sequenced CHCHD2 gene in 162 patients (90 from ADPD pedigrees, 72 with sporadic Parkinson disease) and 90 healthy controls in Chinese population. We observed 5 exonic variants (c.-34C>A, c.-9T>G, c.5C>T, c.*125G>A, c.*154A>G) including 1 novel variant. No pathogenic mutation was found, suggesting that CHCHD2 mutations may be rare in Chinese ADPD patients...
August 26, 2016: Neuroscience Letters
Yong Liu, Yanping Zhang
As the powerhouse of cells and gatekeeper for apoptosis, mitochondria control life and death. CHCHD2, a mitochondrial protein previously known to regulate metabolism, has recently been identified as an apoptosis inhibitor. New data suggest a model in which CHCHD2 performs a prosurvival function by acting as both a reactive oxygen species scavenger and BCL-XL activator.
October 2015: Molecular & Cellular Oncology
Xinglong Yang, Quanzhen Zhao, Ran An, JinHua Zheng, Sijia Tian, Yalan Chen, Yanming Xu
BACKGOUND: Building on recent evidence linking the CHCHD2 gene to both familial and sporadic Parkinson's disease (PD), we carried out a case-control study to examine possible associations between the CHCHD2 gene and PD. METHOD: We sequenced all four coding regions, exon-intron boundaries, untranslated regions and flanking regions of CHCHD2 in 30 patients with familial disease, 554 patients with sporadic disease and 594 healthy controls. All subjects were Han Chinese from western China...
August 2016: Parkinsonism & related Disorders
Celia van der Merwe, Jonathan Carr, Brigitte Glanzmann, Soraya Bardien
Parkinson's disease (PD) is a neurodegenerative movement disorder characterized by the loss of dopaminergic neurons in the substantia nigra of the midbrain. To date, a number of PD-causing genes have been found, including SNCA, LRRK2, VPS35, PARK2, PINK1, DJ-1, ATP13A2, and most recently CHCHD2. Mutations in these genes range from point mutations to larger exonic rearrangements including deletions and duplications. This study aimed to detect possible copy number variation (CNV) in the known PD-causing genes in a cohort of South African patients with PD...
April 21, 2016: Neuroscience Letters
Nukala Sarath Babu, Ch Lakshmi N Murthy, Sameera Kakara, Rahul Sharma, Cherukuvada V Brahmendra Swamy, Mohammed M Idris
Parkinson's disease (PD) is the most common age associated neurodegenerative disease, which has been extensively studied for its etiology and phenotype. PD has been widely studied in alternate model system such as rodents towards understanding the role of neurotoxin by inducing PD. This study is aimed to understand the biomechanism of PD in zebrafish model system induced by 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP). The phenotype and role of various genes and proteins for Parkinsonism were tested and evaluated in this study using behavior, molecular and proteomic approaches...
May 2016: Proteomics
Keiko Shimojima, Akihisa Okumura, Toshiyuki Yamamoto
Lissencephaly is a type of the congenital malformation of the brain. Due to the impairments of neuronal migration, patients show absence of brain convolution manifesting smooth brain surfaces. One of the human genes responsible for lissencephaly is the platelet-activating factor acetylhydrolase 1b gene (PAFAH1B; also known as LIS1) located on 17p13.3. Patients with heterozygous deletion of this chromosomal region exhibit lissencephaly. Recently, we encountered a male patient who showed typical lissencephaly...
September 2015: Data in Brief
Eva Koschmidder, Anne Weissbach, Norbert Brüggemann, Meike Kasten, Christine Klein, Katja Lohmann
No abstract text is available yet for this article.
February 9, 2016: Neurology
Tian-Sin Fan, Hang-I Lin, Chin-Hsien Lin, Ruey-Meei Wu
A recent study identified a missense mutation in coiled-coil-helix-coiled-coil-helix domain-containing 2 (CHCHD2) gene, p.Thr61Ile, in a Japanese multigenerational family with autosomal dominant Parkinson's disease (PD). Subsequent analyses identified several genetic variants in this gene that contributed to increased risk of sporadic PD, making CHCHD2 a novel candidate gene associated with PD. However, independent studies are warranted to confirm the role of CHCHD2 in PD. Among 1433 participated subjects, we sequenced all exons and exon-intron boundaries of CHCHD2 from 137 probands with familial PD and 129 age/sex-matched controls...
February 2016: Neurobiology of Aging
Ming Zhang, Zhengrui Xi, Shilun Fang, Mahdi Ghani, Christine Sato, Danielle Moreno, Yan Liang, Anthony E Lang, Ekaterina Rogaeva
Recently, several CHCHD2 mutations were reported to be associated with autosomal dominant Parkinson's disease (PD) in a Japanese population. However, an association between CHCHD2 and PD was not observed in 2 Caucasian data sets. The present study searched for CHCHD2 coding variants in Canadian PD patients. Sanger sequencing of all CHCHD2 exons revealed no coding mutations in 155 familial cases. Moreover, 3 coding CHCHD2 polymorphisms available on the NeuroX array (Pro2Leu, Pro14Ser, and Ile118Met) were homozygous for the major allele in an additional 85 PD patients...
February 2016: Neurobiology of Aging
Kotaro Ogaki, Shunsuke Koga, Michael G Heckman, Fabienne C Fiesel, Maya Ando, Catherine Labbé, Oswaldo Lorenzo-Betancor, Elisabeth L Moussaud-Lamodière, Alexandra I Soto-Ortolaza, Ronald L Walton, Audrey J Strongosky, Ryan J Uitti, Allan McCarthy, Timothy Lynch, Joanna Siuda, Grzegorz Opala, Monika Rudzinska, Anna Krygowska-Wajs, Maria Barcikowska, Krzysztof Czyzewski, Andreas Puschmann, Kenya Nishioka, Manabu Funayama, Nobutaka Hattori, Joseph E Parisi, Ronald C Petersen, Neill R Graff-Radford, Bradley F Boeve, Wolfdieter Springer, Zbigniew K Wszolek, Dennis W Dickson, Owen A Ross
OBJECTIVE: To assess the role of CHCHD2 variants in patients with Parkinson disease (PD) and Lewy body disease (LBD) in Caucasian populations. METHODS: All exons of the CHCHD2 gene were sequenced in a US Caucasian patient-control series (878 PD, 610 LBD, and 717 controls). Subsequently, exons 1 and 2 were sequenced in an Irish series (355 PD and 365 controls) and a Polish series (394 PD and 350 controls). Immunohistochemistry and immunofluorescence studies were performed on pathologic LBD cases with rare CHCHD2 variants...
December 8, 2015: Neurology
Zhenhua Liu, Jifeng Guo, Kai Li, Lixia Qin, Jifeng Kang, Li Shu, Yuan Zhang, Yang Wei, Nannan Yang, Yang Luo, Qiying Sun, Qian Xu, Xinxiang Yan, Beisha Tang
Funayama et al. recently identified mutations in the CHCHD2 gene in Japanese families with autosomal dominant Parkinson's disease, increasing our knowledge about the monogenic cause of this disorder. However, there is no report regarding the association between CHCHD2 and Parkinson's disease (PD) in the Chinese Han population. The aim of this study was to obtain the prevalence of CHCHD2 mutations in Chinese familial PD. Genetic analysis of mutations in CHCHD2 gene was conducted in a cohort of 92 families with autosomal dominant Parkinson's disease from mainland China...
November 2015: Neurobiology of Aging
Keiko Shimojima, Akihisa Okumura, Masaharu Hayashi, Takayuki Kondo, Haruhisa Inoue, Toshiyuki Yamamoto
The human cerebral cortex is peculiar for a six-layered cellular-sheet structure with convolution, which is a consequence of neuronal migration. Dysfunctions of the pathways contributing to this mechanism typically lead to lissencephaly manifesting smooth brain surfaces. To investigate the unknown mechanism underlying neuronal migration disorders, we generated induced pluripotent stem (iPS) cells from two patients with lissencephaly. Whole gene expression study for iPS cells derived from a patient with a LIS1 deletion showed reduced expression of the coiled-coil-helix-coiled-coil-helix domain containing 2 gene (CHCHD2), which was also confirmed in iPS cells derived from a patient with a TUBA1A mutation...
October 2015: Genomics
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