Description:
FRIEDREICH ATAXIA 1; FRDA
FRATAXIN; FXN
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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 Nervous System |
| Class |
Disorders with Trinucleotide Expansions |
| 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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Family Member
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2
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Relation to Proband
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brother
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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 |
FXN |
| Chromosomal Location |
9q13-q21.1 |
| Allelic Variant 1 |
606829.0001; FRIEDREICH ATAXIA |
| Identified Mutation |
(GAA)n EXPANSION; GAA triplet repeat expansions between 200 and 900 copies in the first intron of the frataxin gene occurred in 71 out of 74 FRDA patients studied by Campuzano et al. [Science 271: 1423-1427 (1996)]. In unaffected individuals the triplet expansion numbered between 7 and 20 units. |
| Remarks |
Clinically unaffected carrier; mild cerebral palsy and hemiparesis; brother of GM15850 and GM15851; donor subject has one allele with GAA triplet repeat expansion of 920 in the first intron of the frataxin gene and the 2nd allele has a # of GAA repeats within normal limits. |
| Chiu R, Rajan-Babu IS, Birol I, Friedman JM, Linked-read sequencing for detecting short tandem repeat expansions Scientific reports12:9352 2021 |
| PubMed ID: 35672336 |
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| Xu L, Sun Z, Xing Z, Liu Y, Zhao H, Tang Z, Luo Y, Hao S, Li K, Cur@SF NPs alleviate Friedreich's ataxia in a mouse model through synergistic iron chelation and antioxidation Journal of nanobiotechnology20:118 2021 |
| PubMed ID: 35264205 |
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| Rodden LN, Chutake YK, Gilliam K, Lam C, Soragni E, Hauser L, Gilliam M, Wiley G, Anderson MP, Gottesfeld JM, Lynch DR, Bidichandani SI, Methylated and unmethylated epialleles support variegated epigenetic silencing in Friedreich ataxia Human molecular genetics29:3818-3829 2020 |
| PubMed ID: 33432325 |
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| Nabhan JF, Gooch RL, Piatnitski Chekler EL, Pierce B, Bulawa CE, Perturbation of cellular proteostasis networks identifies pathways that modulate precursor and intermediate but not mature levels of frataxin Scientific reports5:18251 2015 |
| PubMed ID: 26671574 |
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| Xia H, Cao Y, Dai X, Marelja Z, Zhou D, Mo R, Al-Mahdawi S, Pook MA, Leimkühler S, Rouault TA, Li K, Novel frataxin isoforms may contribute to the pathological mechanism of friedreich ataxia PloS one7:e47847 2012 |
| PubMed ID: 23082224 |
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| Willis JH, Isaya G, Gakh O, Capaldi RA, Marusich MF, Lateral-flow immunoassay for the frataxin protein in Friedreich's ataxia patients and carriers Molecular genetics and metabolism94:491-7 2008 |
| PubMed ID: 18485778 |
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