KEGG DISEASE: Autosomal recessive progressive external ophthalmoplegia

KEGG

DISEASE: Autosomal recessive progressive external ophthalmoplegia

Entry

H01395                      Disease

Name

Autosomal recessive progressive external ophthalmoplegia

Supergrp

Progressive external ophthalmoplegia [DS:H01118]
Mitochondrial disease [DS:H01427]

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

Brite

Human diseases in ICD-11 classification [BR:br08403]
09 Diseases of the visual system
  Strabismus or ocular motility disorders
   9C82  Disorders of extraocular muscles
    H01395  Autosomal recessive progressive external ophthalmoplegia
Pathway-based classification of diseases [BR:br08402]
Replication, repair and transcription
  nt06506  Double-strand break repair
   H01395  Autosomal recessive progressive external ophthalmoplegia

Network

nt06506 Double-strand break repair

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]
(PEOB6) RRM1 [HSA:6240] [KO:K10807]

Other DBs

ICD-11:

MeSH:

OMIM:

258450 616479 617069 617070 618098 620647

Reference

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

Reference

PMID:11431686 (PEOB1)

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

Reference

PMID:26094573 (PEOB2)

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

Reference

PMID:21937588 (PEOB3)

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

Reference

PMID:23043144 (PEOB4)

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

Reference

PMID:29290614 (PEOB5)

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

Reference

PMID:35617047 (PEOB6)

Authors

Shintaku J, Pernice WM, Eyaid W, Gc JB, Brown ZP, Juanola-Falgarona M, Torres-Torronteras J, Sommerville EW, Hellebrekers DM, Blakely EL, Donaldson A, van de Laar I, Leu CS, Marti R, Frank J, Tanji K, Koolen DA, Rodenburg RJ, Chinnery PF, Smeets HJM, Gorman GS, Bonnen PE, Taylor RW, Hirano M

Title

RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis.

Journal

J Clin Invest 132:145660 (2022)
DOI:10.1172/JCI145660

LinkDB

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