NA13411
DNA from Fibroblast
Description:
LEIGH SYNDROME; LS
ATP SYNTHASE 6; MTATP6
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Carbohydrate Metabolism |
| Class |
Disorders of the Mitochondrial Genome |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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Asian
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Ethnicity
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CHINESE
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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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| PDL at Freeze |
4.5 |
| Passage Frozen |
5 |
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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 |
MTATP6 |
| Chromosomal Location |
NA |
| Allelic Variant 1 |
516060.0001; LEIGH SYNDROME |
| Identified Mutation |
LEU156ARG; Holt et al. [Am. J. Hum. Genet. 46: 428 (1990)] found a heteroplasmic T-to-G transversion at nucleotide pair 8993 in a maternal pedigree which resulted in the change of a hydrophobic leucine to a hydrophilic arginine at position 156 in subunit 6 of mitochondrial H(+)-ATPase. The clinical symptoms varied in proportion to the percentage of mutant mtDNAs but the most common clinical presentation included neurogenic muscle weakness, ataxia, and retinitis pigmentosa, leading to the designation of NARP (551500). The insertion of an arginine in the hydrophobic sequence of ATPase 6 probably interferes with the hydrogen ion channel formed by subunits 6 and 9 of the ATPase, thus causing failure of ATP synthesis. Tatuch et al. [Am. J. Hum. Genet. 50: 852 (1992)] and Shoffner et al. [Neurology 42: 2168 (1992)] demonstrated that the nucleotide 8993 mutation can cause Leigh disease. |
| Remarks |
Chinese; Leigh syndrome and hypertrophic cardiomyopathy; developmental delay; hypotonia; recurrent lactic acidosis; skeletal muscle and fibroblasts show 8993T>G mtDNA point mutation in ATPase 6 gene, MTATP6 [Leu156Arg (L156R)] |
| Tian D, Cui M, Han M, Bacterial muropeptides promote OXPHOS and suppress mitochondrial stress in mammals Cell reports43:114067 2023 |
| PubMed ID: 38583150 |
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| Son D, Zheng J, Kim IY, Kang PJ, Park K, Priscilla L, Hong W, Yoon BS, Park G, Yoo JE, Song G, Lee JB, You S, Human induced neural stem cells support functional recovery in spinal cord injury models Experimental & molecular medicine43:114067 2022 |
| PubMed ID: 37258581 |
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| Romero-Morales AI, Robertson GL, Rastogi A, Rasmussen ML, Temuri H, McElroy GS, Chakrabarty RP, Hsu L, Almonacid PM, Millis BA, Chandel NS, Cartailler JP, Gama V, Human iPSC-derived cerebral organoids model features of Leigh syndrome and reveal abnormal corticogenesis Development (Cambridge, England)149:114067 2021 |
| PubMed ID: 35792828 |
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| Patananan AN, Sercel AJ, Wu TH, Ahsan FM, Torres A, Kennedy SAL, Vandiver A, Collier AJ, Mehrabi A, Van Lew J, Zakin L, Rodriguez N, Sixto M, Tadros W, Lazar A, Sieling PA, Nguyen TL, Dawson ER, Braas D, Golovato J, Cisneros L, Vaske C, Plath K, Rabizadeh S, Niazi KR, Chiou PY, Teitell MA, Pressure-Driven Mitochondrial Transfer Pipeline Generates Mammalian Cells of Desired Genetic Combinations and Fates Cell reports33:108562 2020 |
| PubMed ID: 33378680 |
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| Johnson SC, Martinez F, Bitto A, Gonzalez B, Tazaerslan C, Cohen C, Delaval L, Timsit J, Knebelmann B, Terzi F, Mahal T, Zhu Y, Morgan PG, Sedensky MM, Kaeberlein M, Legendre C, Suh Y, Canaud G, mTOR inhibitors may benefit kidney transplant recipients with mitochondrial diseases Kidney international33:108562 2018 |
| PubMed ID: 30471880 |
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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 : JMD33:108562 2013 |
| PubMed ID: 23665194 |
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| Pastores GM, Santorelli FM, Shanske S, Gelb BD, Fyfe B, Wolfe D, Willner JP, Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G). Am J Med Genet50:265-71 1994 |
| PubMed ID: 8042671 |
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