| H01395 | |
| H number | H01395 |
| Name | Autosomal recessive progressive external ophthalmoplegia |
| Description | 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. |
| Category | Nervous system disease |
| Network | - |
| Gene | (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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 9C82.0 ICD-10: H49.4 MeSH: C564926 OMIM: 258450 616479 617069 617070 618098 |
| Reference | PMID:20558295 AUTHORS Cohen BH, Naviaux RK TITLE The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders. JOURNAL Methods 51:364-73 (2010) DOI:10.1016/j.ymeth.2010.05.008 PMID:11431686 (POLG) AUTHORS Van Goethem G, Dermaut B, Lofgren A, Martin JJ, Van Broeckhoven C TITLE Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. JOURNAL Nat Genet 28:211-2 (2001) DOI:10.1038/90034 PMID:26094573 (RNASEH1) AUTHORS 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 TITLE RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy. JOURNAL Am J Hum Genet 97:186-93 (2015) DOI:10.1016/j.ajhg.2015.05.013 PMID:21937588 (TK2) AUTHORS Tyynismaa H, Sun R, Ahola-Erkkila S, Almusa H, Poyhonen R, Korpela M, Honkaniemi J, Isohanni P, Paetau A, Wang L, Suomalainen A TITLE Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions. JOURNAL Hum Mol Genet 21:66-75 (2012) DOI:10.1093/hmg/ddr438 PMID:23043144 (DGUOK) AUTHORS 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 TITLE Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions. JOURNAL Brain 135:3404-15 (2012) DOI:10.1093/brain/aws258 PMID:29290614 (TOP3A) AUTHORS 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 TITLE Topoisomerase 3alpha Is Required for Decatenation and Segregation of Human mtDNA. JOURNAL Mol Cell 69:9-23.e6 (2018) DOI:10.1016/j.molcel.2017.11.033 |