Publications by authors named "Maria J Arredondo"
TANGO2-deficiency disorder (TDD) is an autosomal-recessive genetic disease caused by biallelic loss-of-function variants in the TANGO2 gene. TDD-associated cardiac arrhythmias are recalcitrant to standard antiarrhythmic medications and constitute the leading cause of death. Disease modeling for TDD has been primarily carried out using human dermal fibroblast and, more recently, in Drosophila by multiple research groups.
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- Spinocerebellar ataxia type 10 (SCA10) is a genetic disorder marked by an expansion of the (ATTCT)n repeat in the ATXN10 gene, primarily found in Native American and Asian populations.
- Researchers discovered a common genetic marker (rs41524547-G) associated with SCA10, which is located near a miRNA gene and is largely limited to the Americas and East Asia.
- The study suggests that this marker can help identify individuals at risk for SCA10 and supports the idea of a single ancestral origin for SCA10 expansions, possibly linked to migrations across the Bering Land Bridge.
Article Synopsis
- Streptococcus pyogenes causes 700 million infections globally each year, and despite extensive research, an effective vaccine remains unavailable.
- A study sequenced 2,101 strains and found specific genetic variations that affect the bacterium's virulence, combining different analytical methods to deepen understanding of how these genetic factors influence disease severity.
- The approach used in this research can be applied to other microbes, potentially paving the way for new treatments for various human pathogens.