The Contribution of Somatic Expansion of the CAG Repeat to Symptomatic Development in Huntington’s Disease: A Historical Perspective
The discovery in the early 1990s of the expansion of unstable simple sequence repeats as the causative mutation for a number of inherited human disorders, including Huntington’s disease (HD), opened up a new era of human genetics and provided explanations for some old problems. In particular, an inv...
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| Published in | Journal of Huntington's disease Vol. 10; no. 1; pp. 7 - 33 |
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| Main Author | |
| Format | Journal Article |
| Language | English |
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London, England
SAGE Publications
01.01.2021
Sage Publications Ltd IOS Press |
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| Online Access | Get full text |
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| Abstract | The discovery in the early 1990s of the expansion of unstable simple sequence repeats as the causative mutation for a number of inherited human disorders, including Huntington’s disease (HD), opened up a new era of human genetics and provided explanations for some old problems. In particular, an inverse association between the number of repeats inherited and age at onset, and unprecedented levels of germline instability, biased toward further expansion, provided an explanation for the wide symptomatic variability and anticipation observed in HD and many of these disorders. The repeats were also revealed to be somatically unstable in a process that is expansion-biased, age-dependent and tissue-specific, features that are now increasingly recognised as contributory to the age-dependence, progressive nature and tissue specificity of the symptoms of HD, and at least some related disorders. With much of the data deriving from affected individuals, and model systems, somatic expansions have been revealed to arise in a cell division-independent manner in critical target tissues via a mechanism involving key components of the DNA mismatch repair pathway. These insights have opened new approaches to thinking about how the disease could be treated by suppressing somatic expansion and revealed novel protein targets for intervention. Exciting times lie ahead in turning these insights into novel therapies for HD and related disorders. |
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| AbstractList | The discovery in the early 1990s of the expansion of unstable simple sequence repeats as the causative mutation for a number of inherited human disorders, including Huntington's disease (HD), opened up a new era of human genetics and provided explanations for some old problems. In particular, an inverse association between the number of repeats inherited and age at onset, and unprecedented levels of germline instability, biased toward further expansion, provided an explanation for the wide symptomatic variability and anticipation observed in HD and many of these disorders. The repeats were also revealed to be somatically unstable in a process that is expansion-biased, age-dependent and tissue-specific, features that are now increasingly recognised as contributory to the age-dependence, progressive nature and tissue specificity of the symptoms of HD, and at least some related disorders. With much of the data deriving from affected individuals, and model systems, somatic expansions have been revealed to arise in a cell division-independent manner in critical target tissues via a mechanism involving key components of the DNA mismatch repair pathway. These insights have opened new approaches to thinking about how the disease could be treated by suppressing somatic expansion and revealed novel protein targets for intervention. Exciting times lie ahead in turning these insights into novel therapies for HD and related disorders. |
| Author | Monckton, Darren G. |
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| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/33579863$$D View this record in MEDLINE/PubMed |
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| Keywords | mutation CAG repeat anticipation Somatic expansion genotype to phenotype DNA mismatch repair |
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| Snippet | The discovery in the early 1990s of the expansion of unstable simple sequence repeats as the causative mutation for a number of inherited human disorders,... |
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| SubjectTerms | Age Animals Anticipation, Genetic - genetics Cell division DNA repair DNA Repair - genetics Genetics - history History, 19th Century History, 20th Century History, 21st Century Humans Huntington Disease - genetics Huntington Disease - physiopathology Huntington's disease Huntingtons disease Mismatch repair Polyglutamine Review Simple sequence repeats Trinucleotide repeat diseases Trinucleotide Repeat Expansion - genetics Trinucleotide repeats |
| Title | The Contribution of Somatic Expansion of the CAG Repeat to Symptomatic Development in Huntington’s Disease: A Historical Perspective |
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