Progressive external ophthalmoplegia

PEO progressive external ophthalmoplegia RER rough endoplasmic reticulum... 

MELAS, Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes CPEO, chronic progressive external ophthalmoplegia LHON, Leber hereditary optic neuropathy NARP, neurogenic muscle weakness, ataxia, and retinitis pigmentosa NIDDM, non-insulin-dependent diabetes mellitus TER, termination. 

M21. Miiller-Hocker, J., Stiinkel, S., Pongratz, D., and Hiibner, G., Focal deficiency of cytochrome-c-oxidase and of mitochondrial ATPase combined with loosely coupled oxidative phosphorylation in the skeletal muscle of a patient with progressive external ophthalmoplegia An enzyme histochemical, immunocytochemical and fine structure study. J. Neurol. Sci. 69, 27-36 (1985). 

P7. Piccolo, G., Banfi, P., Azan, G., Rizzuto, R., Bisson, R., Sandona, D., and Bellomo, G., Biological markers of oxidative stress in mitochondrial myopathies with progressive external ophthalmoplegia. J. Neurol. Sci. 105, 57-60 (1991). 

V3. van Goethem, G., Dermaut, B., Lofgren, A., Martin, J. J., and van Broeckhoven, C., Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat. Genet. 28, 211-212 (2001). 

MNGIE (mitochondrial neurogastrointestinal encephalopathy) Progressive external ophthalmoplegia... 

Milder rearrangements (duplications) 2. Severe rearrangements (deletions) Maternally inherited adult-onset diabetes and deafness Adult-onset, Chronic Progressive External Ophthalmoplegia (CPEO), Keams-Sayre Syndrome (KSS), Lethal Childhood Disorders, Pearsons Marrow/Pancreas Syndrome... 

Large mtDNA deletions account for most cases of ocular myopathy and Pearson s marrow/pancreas syndrome. Ocular myopathy patients can exhibit a variety of clinical symptoms, from mild chronic progressive external ophthalmoplegia (CPEO) to Kearns-Sayre Syndrome (KSS). These diseases are characterized by an early onset of ophthalmoplegia, atypical retinitis pigmentosa, mitochondrial myopathy, and usually cerebellar syndrome and cardiac conduction abnormalities. More than 120 different mtDNA deletions have been identified from patients tissues. Partial duplications of mtDNA have been detected in ocular myopathy and Pearson s syndrome, however, duplications are much rarer than spontaneous deletions in patients with these conditions. Exactly how partial mtDNA duplications arise is unknown. 

For a period it was believed that DNA repair was confined to the nuclear DNA, as an early finding showed the absence of repair of UV-induced damage in mitochondrial DNA [9]. However, several reports later showed that mitochondria can repair a variety of DNA lesions including strand breaks, alkali-sensitive sites, Fpg-sensitive sites (reviewedby [10]), and mismatches [11]. The significance of mitochondrial DNA repair is not yet clear. Few defects in mitochondrial DNA repair and/or replication have been reported. Two diseases have so far been attributed to alterations in the major mitochondrial DNA repair enzyme polymerase y progressive external ophthalmoplegia and Alper s syndrome [12]. 

The association of mitochondrial myopathy, chronic progressive external ophthalmoplegia and hypothyroidism has been reported in a case report (Doriguzzi et ai, 1989). 

Ponamarev, M. V., Longley, M. J., Nguyen, D., Kunkel, T. A., and Gopeland, W. C. (2002). Active site mutation in DNA polymerase gamma associated vdth progressive external ophthalmoplegia causes error-prone DNA synthesis. J. Biol Chem. 277, 15225-15228. 

Reduced OXPHOS-enzyme activities (autosomal dominant progressive external ophthalmoplegia mutations in the ANTI gene)... 

PEO (progressive external ophthalmoplegia) 302, 525 Pericardial effusion 414 Perioral cutaneous eruption 197 Peripheral nervous system (PNS) 118 Peritonitis 641 Pes equinovarus 95 Phenotype / phenotypic... 

Moraes CT, DiMauro S, Zeviam M et al. (1989) Mitochondrial DNA deletions in progressive external ophthalmoplegia and Keams-Sayre syndrome. N EnglJ Med 120, 1293-1299. 

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