Single-nucleotide variations in the genes encoding the mitochondrial Hsp60/Hsp10 chaperone system and their disease-causing potential
| Autor: | Huanming Yang, Jens Jacob Hansen, Jakob S. Hansen, Marit Nyholm Nielsen, Peter Bross, Zhijie Li, Costa Georgopoulos, Jytte Banner Lundemose, Lars Bolund, Hans Eiberg, Niels Gregersen, Steen Kølvraa, Klaziena Niezen-Koning, Thomas J. Corydon, Debbie Ang |
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| Přispěvatelé: | Groningen University Institute for Drug Exploration (GUIDE), Center for Liver, Digestive and Metabolic Diseases (CLDM) |
| Jazyk: | angličtina |
| Rok vydání: | 2007 |
| Předmět: |
Butyryl-CoA Dehydrogenase
Hsp10 sudden infant death syndrome short-chain acyl-CoA dehydrogenase Biology Polymorphism Single Nucleotide Chaperonin Mitochondrial Proteins SUDDEN INFANT-DEATH-SYNDROME Genetics Chaperonin 10 Coding region Humans Genetic Predisposition to Disease protein quality control Promoter Regions Genetic Child Gene Genetics (clinical) POLYMORPHISMS modifier gene IDENTIFICATION MUTATIONS Infant Newborn Infant Promoter Chaperonin 60 Sudden infant death syndrome molecular chaperone Hsp60 Phenotype Malonates mitochondria DEFICIENCY ESCHERICHIA-COLI Chaperone (protein) Child Preschool biology.protein Chaperone complex COA DEHYDROGENASE MCAD MOLECULAR PATHOGENESIS Promoter Regions (Genetics) Sudden Infant Death |
| Zdroj: | Bross, P, Li, Z, Hansen, J, Hansen, J J, Nielsen, M N, Corydon, T J, Georgopoulos, C, Ang, D, Lundemose, J B, Niezen-Koning, K, Eiberg, H, Yang, H, Kølvraa, S, Bolund, L & Gregersen, N 2007, ' Single-nucleotide variations in the genes encoding the mitochondrial Hsp60/Hsp10 chaperone system and their disease-causing potential ', Journal of Human Genetics, vol. 52, no. 1, pp. 56-65 . https://doi.org/10.1007/s10038-006-0080-7 Bross, P, Li, Z, Hansen, J, Hansen, J J, Nielsen, M N, Corydon, T J, Georgopoulos, C, Ang, D, Lundemose, J B, Niezen-Koning, K, Eiberg, H, Yang, H, Kølvraa, S, Bolund, L & Gregersen, N 2006, ' Single-nucleotide variations in the genes encoding the mitochondrial Hsp60/Hsp10 chaperone system and their disease-causing potential ', Journal of Human Genetics, vol. 52, no. 1, pp. 56-65 . https://doi.org/10.1007/s10038-006-0080-7 Journal of human genetics, 52(1), 56-65. Nature Publishing Group |
| ISSN: | 1434-5161 |
| DOI: | 10.1007/s10038-006-0080-7 |
| Popis: | Udgivelsesdato: 2007-null Molecular chaperones assist protein folding, and variations in their encoding genes may be disease-causing in themselves or influence the phenotypic expression of disease-associated or susceptibility-conferring variations in many different genes. We have screened three candidate patient groups for variations in the HSPD1 and HSPE1 genes encoding the mitochondrial Hsp60/Hsp10 chaperone complex: two patients with multiple mitochondrial enzyme deficiency, 61 sudden infant death syndrome cases (MIM: #272120), and 60 patients presenting with ethylmalonic aciduria carrying non-synonymous susceptibility variations in the ACADS gene (MIM: *606885 and #201470). Besides previously reported variations we detected six novel variations: two in the bidirectional promoter region, and one synonymous and three non-synonymous variations in the HSPD1 coding region. One of the non-synonymous variations was polymorphic in patient and control samples, and the rare variations were each only found in single patients and absent in 100 control chromosomes. Functional investigation of the effects of the variations in the promoter region and the non-synonymous variations in the coding region indicated that none of them had a significant impact. Taken together, our data argue against the notion that the chaperonin genes play a major role in the investigated diseases. However, the described variations may represent genetic modifiers with subtle effects. |
| Databáze: | OpenAIRE |
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