Publications by authors named "D G Monckton"
Article Synopsis
- Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is linked to a CAG repeat expansion in the ATXN3 gene, with longer repeats leading to earlier disease onset and increased intergenerational anticipation.
- Researchers used advanced sequencing techniques to analyze the ATXN3 repeat and somatic expansion in individuals from the Azores, finding issues with traditional measurement methods that could affect understanding of clinical outcomes.
- The study indicated that while age and CAG repeat length influence somatic expansion, the age factor was more significant, and a specific single nucleotide variant was associated with the expansion rate, highlighting the potential for using ATXN3 repeat analysis in clinical trials.
Background: Cell-based strategies are being explored as a therapeutic option for muscular dystrophies, using a variety of cell types from different origin and with different characteristics. Primary pericytes are multifunctional cells found in the capillary bed that exhibit stem cell-like and myogenic regenerative properties. This unique combination allows them to be applied systemically, presenting a promising opportunity for body-wide muscle regeneration.
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- Huntington's disease (HD) is caused by a CAG repeat expansion and is part of a group of disorders linked to unstable short tandem repeats, highlighting the complexity of genetic influences on the disease.
- Research indicates that both overlapping and unique genetic modifiers affect clinical symptoms and somatic expansion in blood DNA, pointing to specific cell-type interactions in mismatch repair processes.
- The study identifies a 5'-UTR variant that causes somatic expansion without altering clinical HD, and a specific sequence change that accelerates motor symptom onset without increasing expansion, emphasizing potential therapeutic targets for managing HD.
Myotonic dystrophy type 1 (DM1) is a hereditary disease characterized by muscular impairments. Fundamental and clinical positive effects of strength training have been reported in men with DM1, but its impact on women remains unknown. We evaluated the effects of a 12-week supervised strength training on physical and neuropsychiatric health.
View Article and Find Full Text PDFMany Mendelian disorders, such as Huntington's disease (HD) and spinocerebellar ataxias, arise from expansions of CAG trinucleotide repeats. Despite the clear genetic causes, additional genetic factors may influence the rate of those monogenic disorders. Notably, genome-wide association studies discovered somewhat expected modifiers, particularly mismatch repair genes involved in the CAG repeat instability, impacting age at onset of HD.
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