Description:
LEBER OPTIC ATROPHY
COMPLEX I, SUBUNIT ND4; MTND4
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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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Black/African American
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Family Member
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1
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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 |
MTND4 |
| Chromosomal Location |
NA |
| Allelic Variant 1 |
516003.0001; LEBER OPTIC ATROPHY |
| Identified Mutation |
MTND4*LHON11778A; The allele changes the highly conserved arginine at amino acid 340 to a histidine (R340H). This allele accounts for 50% of LHON cases among Caucasians and over 90% of the cases in Asians. |
| Remarks |
Optic atrophy; bilateral central scotoma; sudden onset of blindness at age 45; mitochondrial DNA has a guanine to adenine transition at position 11778 (11778G>A) in the NADH dehydrogenase subunit 4 gene (MTND4); positive family history |
| 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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| , Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015) : Jeddah, Kingdom of Saudi Arabia 30 November - 3 December 2015 BMC genomics17 Suppl 6:487 2016 |
| PubMed ID: 27454254 |
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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 : JMD17 Suppl 6:487 2013 |
| PubMed ID: 23665194 |
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| Goldschmidt R, Arce PM, Khdour OM, Collin VC, Dey S, Jaruvangsanti J, Fash DM, Hecht SM, Effects of cytoprotective antioxidants on lymphocytes from representative mitochondrial neurodegenerative diseases Bioorganic & medicinal chemistry21:969-78 2012 |
| PubMed ID: 23313093 |
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| Singh G, Lott MT, Wallace DC, A mitochondrial DNA mutation as a cause of Leber's hereditary optic neuropathy. N Engl J Med320:1300-5 1989 |
| PubMed ID: 2566116 |
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| Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, Lezza AM, Elsas LJ 2d, Nikoskelainen EK, Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science242:1427-30 1988 |
| PubMed ID: 3201231 |
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