Reports on Machado-Joseph Disease Findings from National University Hospital Provide New Insights [Preimplantation Genetic Testing of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease-Robust Tools for Direct and Indirect Detection of the...].

Předmět:	CENTRAL nervous system diseases NEUROLOGICAL disorders FRIEDREICH'S ataxia GENETIC testing BRAIN diseases SPINOCEREBELLAR ataxia
Zdroj:	Genomics & Genetics Weekly; 8/30/2024, p1154-1154, 1p
Abstrakt:	A recent report discusses research findings on Machado-Joseph disease, a neurodegenerative disorder caused by the ATXN3 CAG repeat expansion. The study focuses on preimplantation genetic testing for monogenic disorders (PGT-M) of SCA3/MJD and proposes a new assay involving ATXN3 (CAG) triplet-primed PCR (TP-PCR) and linkage-based risk allele identification. The researchers developed a panel of highly polymorphic microsatellites closely linked to ATXN3 for the rapid identification of informative markers in at-risk couples. The study concludes that this PGT-M assay could be a robust tool for the direct and indirect detection of the ATXN3 (CAG) repeat expansion in SCA3/MJD. [Extracted from the article]
Databáze:	Complementary Index
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