| H01395 | |
| H番号 | H01395 |
| 名称 | 常染色体劣性遺伝性進行性外眼筋麻痺 |
| 概要 | Autosomal-inherited progressive external ophthalmoplegia (PEO) is an adult-onset disease characterized by the accumulation of multiple mitochondrial DNA (mtDNA) deletions in post-mitotic tissues. Mutations in six different genes have been described to cause the autosomal dominant PEO (PEOA). Conversely, the autosomal recessive PEO (PEOB) has only been associated with mutations in POLG1. Recently, mutations in RNASEH1, TK2, and DGUOK has been identified. |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | (PEOB1) POLG [HSA:5428] [KO:K02332] (PEOB2) RNASEH1 [HSA:246243] [KO:K03469] (PEOB3) TK2 [HSA:7084] [KO:K00857] (PEOB4) DGUOK [HSA:1716] [KO:K00904] (PEOB5) TOP3A [HSA:7156] [KO:K03165] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 9C82.0 ICD-10: H49.4 MeSH: C564926 OMIM: 258450 616479 617069 617070 618098 |
| 文献 | PMID:20558295 著者 Cohen BH, Naviaux RK タイトル The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders. 雑誌 Methods 51:364-73 (2010) DOI:10.1016/j.ymeth.2010.05.008 PMID:11431686 (POLG) 著者 Van Goethem G, Dermaut B, Lofgren A, Martin JJ, Van Broeckhoven C タイトル Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. 雑誌 Nat Genet 28:211-2 (2001) DOI:10.1038/90034 PMID:26094573 (RNASEH1) 著者 Reyes A, Melchionda L, Nasca A, Carrara F, Lamantea E, Zanolini A, Lamperti C, Fang M, Zhang J, Ronchi D, Bonato S, Fagiolari G, Moggio M, Ghezzi D, Zeviani M タイトル RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy. 雑誌 Am J Hum Genet 97:186-93 (2015) DOI:10.1016/j.ajhg.2015.05.013 PMID:21937588 (TK2) 著者 Tyynismaa H, Sun R, Ahola-Erkkila S, Almusa H, Poyhonen R, Korpela M, Honkaniemi J, Isohanni P, Paetau A, Wang L, Suomalainen A タイトル Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions. 雑誌 Hum Mol Genet 21:66-75 (2012) DOI:10.1093/hmg/ddr438 PMID:23043144 (DGUOK) 著者 Ronchi D, Garone C, Bordoni A, Gutierrez Rios P, Calvo SE, Ripolone M, Ranieri M, Rizzuti M, Villa L, Magri F, Corti S, Bresolin N, Mootha VK, Moggio M, DiMauro S, Comi GP, Sciacco M タイトル Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions. 雑誌 Brain 135:3404-15 (2012) DOI:10.1093/brain/aws258 PMID:29290614 (TOP3A) 著者 Nicholls TJ, Nadalutti CA, Motori E, Sommerville EW, Gorman GS, Basu S, Hoberg E, Turnbull DM, Chinnery PF, Larsson NG, Larsson E, Falkenberg M, Taylor RW, Griffith JD, Gustafsson CM タイトル Topoisomerase 3alpha Is Required for Decatenation and Segregation of Human mtDNA. 雑誌 Mol Cell 69:9-23.e6 (2018) DOI:10.1016/j.molcel.2017.11.033 |