Description:
LEBER OPTIC ATROPHY
COMPLEX I, SUBUNIT ND1; MTND1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of the Mitochondrial Genome |
| Class |
Ophthalmologic Disorders |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Ethnicity
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FINNISH
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
MTND1 |
| Chromosomal Location |
NA |
| Allelic Variant 1 |
516000.0001; LEBER OPTIC ATROPHY |
| Identified Mutation |
LHON3460A; This mutation converts the modestly conserved alanine at 52 to a threonine (A52T). It is sufficient by itself to cause LHON, is found in about 15% of Caucasian patients but not controls, has arisen on a variety of genetic backgrounds, can be heteroplasmic, results in vision loss in 14 to 40% of maternal relatives and 33 to 67% of males. |
| Remarks |
Peripapillary microangiopathy; G>A base mutation at nucleotide 3460 (3460G>A) in the MTND1 [NADH-ubiquinone oxidoreductase subunit 1 (ND1) mtDNA] gene; the mutation converts an Ala to a Thr at codon 52 of the gene [Ala52Thr (A52T)] and abolishes an Aha II restriction site |
| Chin RM, Panavas T, Brown JM, Johnson KK, Patient-derived lymphoblastoid cell lines harboring mitochondrial DNA mutations as tool for small molecule drug discovery BMC research notes11:205 2018 |
| PubMed ID: 29587845 |
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| Dames S, Chou LS, Xiao Y, Wayman T, Stocks J, Singleton M, Eilbeck K, Mao R, The Development of Next-Generation Sequencing Assays for the Mitochondrial Genome and 108 Nuclear Genes Associated with Mitochondrial Disorders The Journal of molecular diagnostics : JMD11:205 2013 |
| PubMed ID: 23665194 |
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| Danielson SR, Carelli V, Tan G, Martinuzzi A, Schapira AH, Savontaus ML, Cortopassi GA, Isolation of transcriptomal changes attributable to LHON mutations and the cybridization process Brain : a journal of neurology128:1026-37 2005 |
| PubMed ID: 15728653 |
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| Huoponen K, Vilkki J, Aula P, Nikoskelainen EK, Savontaus ML, A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy. Am J Hum Genet48:1147-53 1991 |
| PubMed ID: 1674640 |
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