Publications by authors named "MaryAnne Anderson"
Article Synopsis
- The study investigates balanced chromosomal abnormalities (BCAs) in 273 individuals with congenital anomalies using whole-genome sequencing to achieve higher resolution than traditional karyotyping.
- The findings revealed that 93% of karyotypes were revised, with 21% of BCAs showing complexity not detectable by standard methods, highlighting the limitations of cytogenetics.
- The research indicated that 33.9% of BCAs caused gene disruption tied to developmental issues, and some breakpoints affected crucial genomic regions, possibly worsening conditions like 5q14.3 microdeletion syndrome due to altered gene expression.
The 'expanded' HD CAG repeat that causes Huntington's disease (HD) encodes a polyglutamine tract in huntingtin, which first targets the death of medium-sized spiny striatal neurons. Mitochondrial energetics, related to N-methyl-d-aspartate (NMDA) Ca2+-signaling, has long been implicated in this neuronal specificity, implying an integral role for huntingtin in mitochondrial energy metabolism. As a genetic test of this hypothesis, we have looked for a relationship between the length of the HD CAG repeat, expressed in endogenous huntingtin, and mitochondrial ATP production.
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