Vilija Lomeikaite
A5015311042- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- DNA Repair Mechanisms
- Neurological disorders and treatments
- Muscle Physiology and Disorders
University of Glasgow
2018-2024
University of Strathclyde
2019
Abstract The mismatch repair gene MSH3 has been implicated as a genetic modifier of the CAG·CTG repeat expansion disorders Huntington’s disease and myotonic dystrophy type 1. A recent genome-wide association study found rs557874766, an imputed single nucleotide polymorphism located within polymorphic 9 bp tandem in MSH3/DHFR, variant most significantly associated with progression disease. Using Illumina sequencing 1 subjects, we show that rs557874766 is alignment artefact, minor allele for...
ABSTRACT Huntington’s disease (HD), due to expansion of a CAG repeat in HTT , is representative growing number disorders involving somatically unstable short tandem repeats. We find that overlapping and distinct genetic modifiers clinical landmarks somatic blood DNA reveal an underlying complexity cell-type specificity the mismatch repair-related processes influence timing. Differential capture non-DNA-repair gene by multiple measures cognitive motor dysfunction argues additionally for...
Background: Huntington’s disease (HD) is an autosomal dominant neurodegenerative disorder caused by the expansion of HTT CAG repeat. Affected individuals inherit ≥36 repeats and longer alleles cause earlier onset, greater severity faster progression. The repeat genetically unstable in soma a process that preferentially generates somatic expansions, proportion which associated with Somatic mosaicism has traditionally been assessed semi-quantitative PCR-electrophoresis approaches have...
Abstract Expansions of glutamine-coding CAG trinucleotide repeats cause a number neurodegenerative diseases, including Huntington’s disease and several spinocerebellar ataxias. In general, age-at-onset the polyglutamine diseases is inversely correlated with size respective inherited expanded repeat. Expanded are also somatically unstable in certain tissues, corrected for individual HTT repeat length (i.e. residual age-at-onset), modified by instability-related DNA maintenance/repair genes as...
<h3>Background</h3> Huntington's disease (HD) and myotonic dystrophy type 1 (DM1) are dominantly inherited diseases caused respectively by CAG CTG repeat expansions. In both, length correlates positively with severity negatively onset. Expanded repeats unstable through the germline, somatically, likely contributing to onset progression. Genetic variation in MSH3, a DNA mismatch repair protein, is associated slower HD progression lower rate of somatic expansion DM1. The lead SNP GWAS...