Mitochondrial DNA genetics and the heteroplasmy conundrum in evolution and disease

DC Wallace, D Chalkia - Cold Spring Harbor …, 2013 - cshperspectives.cshlp.org
The unorthodox genetics of the mtDNA is providing new perspectives on the etiology of the
common “complex” diseases. The maternally inherited mtDNA codes for essential energy …

A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: a dawn for evolutionary medicine

DC Wallace - Annu. Rev. Genet., 2005 - annualreviews.org
Life is the interplay between structure and energy, yet the role of energy deficiency in human
disease has been poorly explored by modern medicine. Since the mitochondria use …

The m1A landscape on cytosolic and mitochondrial mRNA at single-base resolution

M Safra, A Sas-Chen, R Nir, R Winkler, A Nachshon… - Nature, 2017 - nature.com
Modifications on mRNA offer the potential of regulating mRNA fate post-transcriptionally.
Recent studies suggested the widespread presence of N 1-methyladenosine (m1A), which …

Mitochondrial DNA mutations in disease and aging

DC Wallace - Environmental and molecular mutagenesis, 2010 - Wiley Online Library
The human mitochondrial genome involves over 1,000 genes, dispersed across the
maternally inherited mitochondrial DNA (mtDNA) and the biparentally inherited nuclear DNA …

Natural selection shaped regional mtDNA variation in humans

D Mishmar, E Ruiz-Pesini, P Golik… - Proceedings of the …, 2003 - National Acad Sciences
Human mtDNA shows striking regional variation, traditionally attributed to genetic drift.
However, it is not easy to account for the fact that only two mtDNA lineages (M and N) left …

Mitochondrial energetics and therapeutics

DC Wallace, W Fan, V Procaccio - Annual Review of Pathology …, 2010 - annualreviews.org
Mitochondrial dysfunction has been linked to a wide range of degenerative and metabolic
diseases, cancer, and aging. All these clinical manifestations arise from the central role of …

Mitochondrial dysfunction as a cause of optic neuropathies

V Carelli, FN Ross-Cisneros, AA Sadun - Progress in retinal and eye …, 2004 - Elsevier
Mitochondria are increasingly recognized as central players in the life and death of cells and
especially of neurons. The energy-dependence of retinal ganglion cells (RGC) and their …

Effects of purifying and adaptive selection on regional variation in human mtDNA

E Ruiz-Pesini, D Mishmar, M Brandon, V Procaccio… - Science, 2004 - science.org
A phylogenetic analysis of 1125 global human mitochondrial DNA (mtDNA) sequences
permitted positioning of all nucleotide substitutions according to their order of occurrence …

Energetics, epigenetics, mitochondrial genetics

DC Wallace, W Fan - Mitochondrion, 2010 - Elsevier
The epigenome has been hypothesized to provide the interface between the environment
and the nuclear DNA (nDNA) genes. Key factors in the environment are the availability of …

Mitochondrial mutations in cancer

M Brandon, P Baldi, DC Wallace - Oncogene, 2006 - nature.com
The metabolism of solid tumors is associated with high lactate production while growing in
oxygen (aerobic glycolysis) suggesting that tumors may have defects in mitochondrial …