Scott W. Ballinger

TL;DR: An A to G transition mutation at nucleotide pair 8344 in human mitochondrial DNA has been identified as the cause of MERRF, providing molecular confirmation that some forms of epilepsy are the result of deficiencies in mitochondrial energy production.

TL;DR: A pedigree with maternally transmitted DM and deafness for mitochondrial DNA mutations was tested and a 10.4 kilobase mtDNA deletion was discovered, demonstrating that DM can be caused by mtDNA mutations and suggests that some of the heterogeneity of this disease results from the novel features of mtDNA genetics.

TL;DR: Mitochondrial DNA damage may result from RS production in vascular tissues and may in turn be an early event in the initiation of atherosclerotic lesions.

TL;DR: Test the hypothesis that RS produced in the vascular environment cause mitochondrial damage and dysfunction in vitro and, thus, may contribute to the initiating events of atherogenesis, and link RS-mediated mtDNA damage, altered gene expression, and mitochondrial dysfunction in cell culture to reveal how RS may mediate vascular cell dysfunction in the setting of Atherogenesis.

TL;DR: Subcellular or organellar components and their functions that are relevant to cardiovascular disease inception are less understood, but studies are beginning to show that mitochondria not only appear susceptible to damage mediated by increased oxidative and nitrosoxidative stress, but also play significant roles in the regulation of cardiovascular cell function.