Mitochondrial Retinopathies
| Autor: | VALERIO CARELLI, Massimo Zeviani |
|---|---|
| Přispěvatelé: | Zeviani M., Carelli V. |
| Rok vydání: | 2021 |
| Předmět: |
retina
autosomal dominant optic atrophy (ADOA) Mitochondrial Diseases genetic structures QH301-705.5 Review mitochondrial DNA Optic Atrophy Hereditary Leber MtDNA heteroplasmic deletion DNA Mitochondrial Catalysis Inorganic Chemistry mitochondrial disorders Retinal Diseases Kearns-Sayre syndrome retinitis pigmentosa Mitochondrial Disease Animals Humans optic atrophy Biology (General) Physical and Theoretical Chemistry QD1-999 Molecular Biology Spectroscopy Animal neurogenic muscle weakness Organic Chemistry Neurogenic muscle weakne General Medicine eye diseases Mitochondrial disorder Mitochondria Computer Science Applications Chemistry mtDNA heteroplasmic deletions ataxia and retinitis pigmentosa (NARP) sense organs Leber’s hereditary optic neuropathy (LHON) Human |
| Zdroj: | International Journal of Molecular Sciences International Journal of Molecular Sciences, Vol 23, Iss 210, p 210 (2022) |
| ISSN: | 1422-0067 |
| DOI: | 10.3390/ijms23010210 |
| Popis: | The retina is an exquisite target for defects of oxidative phosphorylation (OXPHOS) associated with mitochondrial impairment. Retinal involvement occurs in two ways, retinal dystrophy (retinitis pigmentosa) and subacute or chronic optic atrophy, which are the most common clinical entities. Both can present as isolated or virtually exclusive conditions, or as part of more complex, frequently multisystem syndromes. In most cases, mutations of mtDNA have been found in association with mitochondrial retinopathy. The main genetic abnormalities of mtDNA include mutations associated with neurogenic muscle weakness, ataxia and retinitis pigmentosa (NARP) sometimes with earlier onset and increased severity (maternally inherited Leigh syndrome, MILS), single large-scale deletions determining Kearns–Sayre syndrome (KSS, of which retinal dystrophy is a cardinal symptom), and mutations, particularly in mtDNA-encoded ND genes, associated with Leber hereditary optic neuropathy (LHON). However, mutations in nuclear genes can also cause mitochondrial retinopathy, including autosomal recessive phenocopies of LHON, and slowly progressive optic atrophy caused by dominant or, more rarely, recessive, mutations in the fusion/mitochondrial shaping protein OPA1, encoded by a nuclear gene on chromosome 3q29. |
| Databáze: | OpenAIRE |
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