Μitochondrial Membrane Dynamics and Inherited Optic Neuropathies
Autor: | Eleni Bagli, Anastasia K. Zikou, Georgios Kitsos, Niki J. Agnantis |
---|---|
Rok vydání: | 2017 |
Předmět: |
Retinal Ganglion Cells
0301 basic medicine Cancer Research genetic structures Central nervous system Nerve fiber layer Optic Atrophy Hereditary Leber Review Article Mitochondrial Dynamics Retinal ganglion Retina General Biochemistry Genetics and Molecular Biology Optic neuropathy 03 medical and health sciences Atrophy Optic Nerve Diseases medicine Humans Inner mitochondrial membrane Pharmacology business.industry medicine.disease eye diseases Mitochondria Phenotype 030104 developmental biology medicine.anatomical_structure mitochondrial fusion Mitochondrial Membranes Mutation Optic nerve sense organs business Neuroscience |
Zdroj: | In Vivo. 31:511-525 |
ISSN: | 1791-7549 |
Popis: | Inherited optic neuropathies are a genetically diverse group of disorders mainly characterized by visual loss and optic atrophy. Since the first recognition of Leber’s hereditary optic neuropathy, several genetic defects altering primary mitochondrial respiration have been proposed to contribute to the development of syndromic and non-syndromic optic neuropathies. Moreover, the genomics and imaging revolution in the past decade has increased diagnostic efficiency and accuracy, allowing recognition of a link between mitochondrial dynamics machinery and a broad range of inherited neurodegenerative diseases involving the optic nerve. Mutations of novel genes modifying mainly the balance between mitochondrial fusion and fission have been shown to lead to overlapping clinical phenotypes ranging from isolated optic atrophy to severe, sometimes lethal multisystem disorders, and are reviewed herein. Given the particular vulnerability of retinal ganglion cells to mitochondrial dysfunction, the accessibility of the eye as a part of the central nervous system and improvements in technical imaging concerning assessment of the retinal nerve fiber layer, optic nerve evaluation becomes critical – even in asymptomatic patients – for correct diagnosis, understanding and early treatment of these complex and enigmatic clinical entities. |
Databáze: | OpenAIRE |
Externí odkaz: |