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Hokkaido University Collection of Scholarly and Academic Papers >
Graduate School of Medicine / Faculty of Medicine >
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Genetic analysis of two Japanese families with progressive external ophthalmoplegia and parkinsonism.
| Title: | Genetic analysis of two Japanese families with progressive external ophthalmoplegia and parkinsonism. |
| Authors: | Sato, Kazunori Browse this author | | Yabe, Ichiro Browse this author →KAKEN DB | | Yaguchi, Hiroaki Browse this author | | Nakano, Fumihito Browse this author | | Kunieda, Yasuyuki Browse this author | | Saitoh, Shinji Browse this author →KAKEN DB | | Sasaki, Hidenao Browse this author →KAKEN DB |
| Keywords: | Progressive external ophthalmoplegia | | Deoxyribonucleic acid polymerase gamma gene | | Parkinsonism | | Mitochondria |
| Issue Date: | Jul-2011 |
| Publisher: | Springer-Verlag |
| Journal Title: | Journal of neurology |
| Volume: | 258 |
| Issue: | 7 |
| Start Page: | 1327 |
| End Page: | 1332 |
| Publisher DOI: | 10.1007/s00415-011-5936-x |
| PMID: | 21301859 |
| Abstract: | Mutations in the progressive external ophthalmoplegia 1 (PEO1), adenine nucleotide translocator 1 (ANT1) and DNA polymerase gamma (POLG) genes were reported in patients with progressive external ophthalmoplegia and parkinsonism. However, the genotype-phenotype correlation and pathophysiology of these syndromes are still unknown. In order to define the molecular basis of progressive external ophthalmoplegia and parkinsonism, we screened for mutations in PEO1, ANT1, POLG genes and the whole mitochondrial genome in two families. In results, we identified a compound heterozygous POLG substitutions, c.830A>T (p.H277L) and c.2827C>T (p.R943C) in one of the families. These two mutations in the coding region of POLG alter conserved amino acids in the exonuclease and polymerase domains, respectively, of the POLG protein. Neither of these substitutions was found in the 100 chromosomes of ethnically matched control subjects. In the other family, no mutations were detected in any of the three genes and the whole mitochondrial genome in the blood sample, although mitochondrial DNA deletions were observed in the muscle biopsy sample. Progressive external ophthalmoplegia and parkinsonism are genetically heterogenous disorders, and part of this syndrome may be caused by mutations in other, unknown genes. |
| Rights: | The original publication is available at www.springerlink.com |
| Type: | article (author version) |
| URI: | http://hdl.handle.net/2115/49690 |
| Appears in Collections: | 医学院・医学研究院 (Graduate School of Medicine / Faculty of Medicine) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)
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Submitter: 矢部 一郎
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