Factors associated with ATXN2 CAG/CAA repeat intergenerational instability in Spinocerebellar ataxia type 2
| Autor: | D Cuello-Almarales, Luis Velázquez-Pérez, R Aguilera-Rodríguez, D Almaguer-Gotay, Nieves Santos Falcón, Georg Auburger, L E Almaguer-Mederos, Yanetza González-Zaldivar, J M L Mesa, Susana Gispert |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Adult Male ATXN2 gene Genetic counseling Locus (genetics) Biology Instability Genomic Instability 03 medical and health sciences Genomic Imprinting 0302 clinical medicine Trinucleotide Repeats Genetics medicine Humans Spinocerebellar Ataxias Allele Genetics (clinical) Alleles Ataxin-2 Age Factors medicine.disease 030104 developmental biology Large study Spinocerebellar ataxia Female 030217 neurology & neurosurgery |
| Zdroj: | Clinical genetics. 94(3-4) |
| ISSN: | 1399-0004 |
| Popis: | Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disorder caused by the unstable expansion of a cytosine-adenine-guanine (CAG)/cytosine-adenine-adenine (CAA) repeat in the ATXN2 gene, which normally encodes 22 glutamines (Q22). A large study was conducted to characterize the CAG/CAA repeat intergenerational instability in SCA2 families. Large normal alleles (Q24-31) were significantly more unstable upon maternal transmissions. In contrast, expanded alleles (Q32-750) were significantly more unstable during paternal transmissions, in correlation with repeat length. Significant correlations were found between the instability and the age at conception in paternal transmissions. In conclusion, intergenerational instability at ATXN2 locus is influenced by the sex, repeat length and age at conception of the transmitting parent. These results have profound implications for genetic counseling services. |
| Databáze: | OpenAIRE |
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