Charles Newcomb

Transcriptomic analysis of cells following decreased mitochondrial DNA-copy number reveals compensatory mechanisms in mitochondrial DNA replication and cellular energetics

The paper investigates transcriptomic and methylomic changes in HEK 293T cells with reduced mtDNA copy number, revealing compensatory mechanisms in mitochondrial replication and metabolic pathways.

Longitudinal change in mitochondrial heteroplasmy exhibits positive selection for deleterious variants

This study shows that deleterious mitochondrial DNA mutations increase over time and are associated with higher mortality risk, suggesting positive selection rather than genetic drift.

Mitochondrial DNA copy number reduction via in vitro TFAM knockout remodels the nuclear epigenome and transcriptome

This study shows that reducing mitochondrial DNA copy number in human cells changes nuclear DNA methylation and gene expression, revealing pathways linked to disease.

Rare instances of non-random dropout with the monochrome multiplex qPCR assay for mitochondrial DNA copy number

The paper identifies specific polymorphisms in the D-loop primer region that cause non-random dropout in a monochrome multiplex qPCR assay for mitochondrial DNA copy number.

Mitochondrial DNA Copy Number (mtDNA-CN) Can Influence Mortality and Cardiovascular Disease via Methylation of Nuclear DNA CpGs

This study identifies CpGs associated with mtDNA-CN and shows they influence disease-related phenotypes through nDNA methylation and gene expression changes.

Evaluation of mitochondrial DNA copy number estimation techniques

This study evaluates methods for estimating mitochondrial DNA copy number, finding that whole genome sequencing provides more accurate associations with known correlates than qPCR or microarray platforms.

The effect of sex and underlying disease on the genetic association of QT interval and sudden cardiac death

The paper examines how sex and underlying disease influence the genetic link between prolonged QT interval and sudden cardiac death risk using logistic regression and Mendelian randomization.