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Leber's Hereditary Optic Neuropathy (LHON) with 14484/ND6 mutation in a North African patient. 1998

V Carelli, and P Barboni, and A Zacchini, and R Mancini, and L Monari, and S Cevoli, and R Liguori, and M Sensi, and E Lugaresi, and P Montagna
Institute of Neurology, University of Bologna, Italy. genetica@neuro.unibo.it

We report the clinical and genetic study of a Leber's Hereditary Optic Neuropathy (LHON) patient of North African origin harboring the 14484/ND6 mutation of mtDNA. For over a year we followed the ophthalmological course of this 24-year-old male with LHON treated with idebenone and vitamin B12. Serum lactate after effort was evaluated before, during and after therapy. Muscle biopsy was obtained for morphological study. Homo/heteroplasmy of 14484/ND6 mutation was studied in different tissues. Recovery of visual acuity was documented 6 months after onset and 3 months after therapy was established. Baseline serum lactate was elevated but normalized after 3.5 months of therapy. Muscle biopsy demonstrated only a few fibers with a slightly increased subsarcolemmal SDH activity. Genetic analysis showed homoplasmic 14484/ND6 mutation in all tissues investigated. The clinical phenotype of LHON/14484 in this patient closely resembles that commonly found in European patients. Even if LHON/14484 patients are reported to have a better prognosis for visual recovery, it is possible that the evolution of visual recovery in this patient could have been influenced by therapy as suggested by changes in serum lactate levels. Bioenergetic impairment of skeletal muscle was documented by lactate levels and muscle morphology. The 14484/ND6 mutation behaves as a primary mutation regardless of mtDNA population-specific backgrounds.

UI MeSH Term Description Entries
D008297 Male Males
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D003576 Electron Transport Complex IV A multisubunit enzyme complex containing CYTOCHROME A GROUP; CYTOCHROME A3; two copper atoms; and 13 different protein subunits. It is the terminal oxidase complex of the RESPIRATORY CHAIN and collects electrons that are transferred from the reduced CYTOCHROME C GROUP and donates them to molecular OXYGEN, which is then reduced to water. The redox reaction is simultaneously coupled to the transport of PROTONS across the inner mitochondrial membrane. Cytochrome Oxidase,Cytochrome aa3,Cytochrome-c Oxidase,Cytochrome Oxidase Subunit III,Cytochrome a,a3,Cytochrome c Oxidase Subunit VIa,Cytochrome-c Oxidase (Complex IV),Cytochrome-c Oxidase Subunit III,Cytochrome-c Oxidase Subunit IV,Ferrocytochrome c Oxygen Oxidoreductase,Heme aa3 Cytochrome Oxidase,Pre-CTOX p25,Signal Peptide p25-Subunit IV Cytochrome Oxidase,Subunit III, Cytochrome Oxidase,p25 Presequence Peptide-Cytochrome Oxidase,Cytochrome c Oxidase,Cytochrome c Oxidase Subunit III,Cytochrome c Oxidase Subunit IV,Oxidase, Cytochrome,Oxidase, Cytochrome-c,Signal Peptide p25 Subunit IV Cytochrome Oxidase,p25 Presequence Peptide Cytochrome Oxidase
D004272 DNA, Mitochondrial Double-stranded DNA of MITOCHONDRIA. In eukaryotes, the mitochondrial GENOME is circular and codes for ribosomal RNAs, transfer RNAs, and about 10 proteins. Mitochondrial DNA,mtDNA
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D000352 Africa, Northern The geographical area of Africa comprising ALGERIA; EGYPT; LIBYA; MOROCCO and TUNISIA. It includes also the vast deserts and oases of the Sahara. It is often referred to as North Africa or the Maghreb. Maghreb,Sahara,Maghrib,North Africa,Northern Africa
D001707 Biopsy, Needle Removal and examination of tissue obtained through a transdermal needle inserted into the specific region, organ, or tissue being analyzed. Aspiration Biopsy,Puncture Biopsy,Aspiration Biopsies,Biopsies, Aspiration,Biopsies, Needle,Biopsies, Puncture,Biopsy, Aspiration,Biopsy, Puncture,Needle Biopsies,Needle Biopsy,Puncture Biopsies
D012607 Scotoma A localized defect in the visual field bordered by an area of normal vision. This occurs with a variety of EYE DISEASES (e.g., RETINAL DISEASES and GLAUCOMA); OPTIC NERVE DISEASES, and other conditions. Scotoma, Arcuate,Scotoma, Bjerrum,Scotoma, Central,Scotoma, Centrocecal,Scotoma, Altitudinal,Scotoma, Paracecal,Scotoma, Paracentral,Scotoma, Peripheral,Scotoma, Ring,Scotoma, Scintillating,Scotoma, Sector,Altitudinal Scotoma,Altitudinal Scotomas,Arcuate Scotoma,Arcuate Scotomas,Bjerrum Scotoma,Bjerrum Scotomas,Central Scotoma,Central Scotomas,Centrocecal Scotoma,Centrocecal Scotomas,Paracecal Scotoma,Paracecal Scotomas,Paracentral Scotoma,Paracentral Scotomas,Peripheral Scotoma,Peripheral Scotomas,Ring Scotoma,Ring Scotomas,Scintillating Scotoma,Scintillating Scotomas,Scotomas,Scotomas, Altitudinal,Scotomas, Arcuate,Scotomas, Bjerrum,Scotomas, Central,Scotomas, Centrocecal,Scotomas, Paracecal,Scotomas, Paracentral,Scotomas, Peripheral,Scotomas, Ring,Scotomas, Scintillating,Scotomas, Sector,Sector Scotoma,Sector Scotomas
D013385 Succinate Dehydrogenase A flavoprotein containing oxidoreductase that catalyzes the dehydrogenation of SUCCINATE to fumarate. In most eukaryotic organisms this enzyme is a component of mitochondrial electron transport complex II. Succinic Oxidase,Fumarate Reductase,Succinic Dehydrogenase,Dehydrogenase, Succinate,Dehydrogenase, Succinic,Oxidase, Succinic,Reductase, Fumarate

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