Autosomal recessive progressive external ophthalmoplegia

Definition:

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.

References:

[1]. Aurelio Reyes, et al. RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy. Am J Hum Genet. 2015 Jul 2;97(1):186-93. [Content Brief]

[2]. Bruce H Cohen, et al. The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders. Methods. 2010 Aug;51(4):364-73. [Content Brief]

[3]. Dario Ronchi, et al. Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions. Brain. 2012 Nov;135(Pt 11):3404-15. [Content Brief]

[4]. G Van Goethem, et al. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet. 2001 Jul;28(3):211-2. [Content Brief]

[5]. Henna Tyynismaa, et al. Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions. Hum Mol Genet. 2012 Jan 1;21(1):66-75. [Content Brief]

[6]. Thomas J Nicholls, et al. Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA. Mol Cell. 2018 Jan 4;69(1):9-23.e6. [Content Brief]

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