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Somatic stability of the expanded CAG trinucleotide repeat in X-linked spinal and bulbar muscular atrophy


Spiegel, Roland; La Spada, Albert R; Kress, Wolfram; Fischbeck, Kenneth H; Schmid, Werner (1996). Somatic stability of the expanded CAG trinucleotide repeat in X-linked spinal and bulbar muscular atrophy. Human Mutation, 8(1):32-37.

Abstract

Expansion of trinucleotide repeats has now been associated with eight inherited diseases: X-linked spinal and bulbar muscular atrophy, two fragile X syndromes, myotonic dystrophy, Huntington's disease, spinocerebellar ataxia type I, dentatorubral pallidoluysian atrophy and Machado-Joseph disease. It has been shown that these expanded DNA repeats are unstable in number when transmitted from parents to offspring (“meiotic instability”), while somatic variation in repeat number has also been found in the fragile X syndrome and myotonic dystrophy. Moderate meiotic instability has been demonstrated in X-linked spinal and bulbar muscular atrophy (SBMA, Kennedy's disease). In order to determine if the expanded CAG repeat in SBMA also shows somatic instability, we compared different tissues from two patients with SBMA. We then examined the in vitro stability of the CAG repeat expansion by analyzing fibroblast cell cultures. Length comparison of expanded CAG repeats from all these materials clearly demonstrates that the CAG trinucleotide repeat in SBMA does not exhibit somatic variation.

Abstract

Expansion of trinucleotide repeats has now been associated with eight inherited diseases: X-linked spinal and bulbar muscular atrophy, two fragile X syndromes, myotonic dystrophy, Huntington's disease, spinocerebellar ataxia type I, dentatorubral pallidoluysian atrophy and Machado-Joseph disease. It has been shown that these expanded DNA repeats are unstable in number when transmitted from parents to offspring (“meiotic instability”), while somatic variation in repeat number has also been found in the fragile X syndrome and myotonic dystrophy. Moderate meiotic instability has been demonstrated in X-linked spinal and bulbar muscular atrophy (SBMA, Kennedy's disease). In order to determine if the expanded CAG repeat in SBMA also shows somatic instability, we compared different tissues from two patients with SBMA. We then examined the in vitro stability of the CAG repeat expansion by analyzing fibroblast cell cultures. Length comparison of expanded CAG repeats from all these materials clearly demonstrates that the CAG trinucleotide repeat in SBMA does not exhibit somatic variation.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Life Sciences > Genetics
Health Sciences > Genetics (clinical)
Uncontrolled Keywords:Genetics (clinical), Genetics, X-linked spinal and bulbar muscular atrophy (SBMA), CAG repeat, Somatic stability, Triplet repeat expansion
Language:English
Date:1 January 1996
Deposited On:26 Jan 2023 10:39
Last Modified:28 Apr 2024 01:46
Publisher:Wiley-Blackwell Publishing, Inc.
ISSN:1059-7794
OA Status:Closed
Publisher DOI:https://doi.org/10.1002/(SICI)1098-1004(1996)8:1<32::AID-HUMU4>3.0.CO;2-R
Official URL:https://onlinelibrary.wiley.com/doi/10.1002/%28SICI%291098-1004%281996%298%3A1%3C32%3A%3AAID-HUMU4%3E3.0.CO%3B2-R
PubMed ID:8807333