Publications by authors named "A Shatunov"
Article Synopsis
- Repeat expansions in the C9orf72 gene are a leading genetic cause of ALS and frontotemporal dementia, but understanding how this mutation causes neuron death is still unclear, complicating the search for effective therapies.
- Researchers analyzed data from over 41,000 ALS and healthy samples to identify potential treatments, discovering that acamprosate, a drug used for other conditions, might be repurposed for C9orf72-related diseases.
- Their findings demonstrated that acamprosate has neuroprotective properties in cell models and works similarly well as the current treatment, riluzole, showing the potential of using genomic data to find new drug applications.
The Siberian frog Rana amurensis has a uniquely high tolerance to hypoxia among amphibians, as it is able to withstand several months underwater with almost no oxygen (0.2 mg/liter) vs. several days for other studied species.
View Article and Find Full Text PDFBackground: The importance of thromboembolism in the pathogenesis of lacunar stroke (LS), resulting from cerebral small vessel disease (cSVD), is debated, and although antiplatelets are widely used in secondary prevention after LS, there is limited trial evidence from well-subtyped patients to support this approach. We sought to evaluate whether altered anticoagulation plays a causal role in LS and cSVD using 2-sample Mendelian randomization.
Methods: From a recent genome-wide association study (n=81 190), we used 119 genetic variants associated with venous thrombosis at genome-wide significance (<5*10) and with a linkage disequilibrium r<0.
Article Synopsis
- Humans appear more prone to neurodegeneration than similarly aged primates, and it's unclear if this trait is unique to modern humans or shared with other hominids.
- The study explored the potential impact of Neanderthal DNA on neurodegenerative disorders and examined the role of natural selection on genetic variants linked to these diseases using advanced statistical methods.
- Findings indicated that there is no significant evidence that Neanderthal DNA or positively-selected genetic variants contribute to the genetic risk of Alzheimer's, ALS, or Parkinson's disease, helping to clarify the evolutionary background of these disorders in modern humans.