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Pharmacotherapeutic Considerations For Individuals With Down Syndrome, Erik Hefti
Pharmacotherapeutic Considerations For Individuals With Down Syndrome, Erik Hefti
Harrisburg University Faculty Works
Down syndrome (DS; trisomy 21) is the most common survivable disorder due to aneuploidy. Individuals with DS may experience multiple comorbid health problems including congenital heart defects, endocrine abnormalities, skin and dental problems, seizure disorders, leukemia, dementia, and obesity. These associated conditions may necessitate pharmacotherapeutic management with various drugs. The complex pathobiology of DS may alter drug disposition and drug response in some individuals. For example, reports have documented increased rates of adverse drug reactions in patients with DS treated for leukemia and dementia. Intellectual disability resulting from DS may impact adherence to medication regimens. In this review, we highlight …
Analysis Of Heteroplasmic Variants In The Cardiac Mitochondrial Genome Of Individuals With Down Syndrome, Erik Hefti, Jonathan Bard, Javier G. Blanco
Analysis Of Heteroplasmic Variants In The Cardiac Mitochondrial Genome Of Individuals With Down Syndrome, Erik Hefti, Jonathan Bard, Javier G. Blanco
Harrisburg University Faculty Works
Individuals with Down syndrome (DS, trisomy 21) exhibit a pro-oxidative cellular environment as well as mitochondrial dysfunction. Increased oxidative stress may damage the mitochondrial DNA (mtDNA). The coexistence of mtDNA variants in a cell or tissue (i.e., heteroplasmy) may contribute to mitochondrial dysfunction. Given the evidence on mitochondrial dysfunction and the relatively high incidence of multiorganic disorders associated with DS, we hypothesized that cardiac tissue from subjects with DS may exhibit higher frequencies of mtDNA variants in comparison to cardiac tissue from donors without DS. This study documents the analysis of mtDNA variants in heart tissue samples from donors with …