Mitochondria are critical for the energetic demands of virtually every cellular process within
nucleated eukaryotic cells. They harbour multiple copies of their own genome (mtDNA), as …

Non‐syndromic deafness can be caused by mutations in both nuclear and mitochondrial
genes. More than 50 nuclear genes have been shown to be involved in non‐syndromic …

Heteroplasmy, the existence of multiple mtDNA types within an individual, has been
previously detected by using mostly indirect methods and focusing largely on just the …

Background Mutations in GJB2 are the most common molecular defects responsible for
autosomal recessive nonsyndromic hearing impairment (NSHI). The mutation spectra of this …

Mammalian mitochondrial ribosomes (mitoribosomes) synthesize a small subset of proteins,
which are essential components of the oxidative phosphorylation machinery. Therefore, their …

Mitochondrial genome (mitochondrial DNA, mtDNA) lesions that unbalance bioenergetic
and oxidative outputs are an important cause of human disease. A major impediment in our …

Mitochondria are central players in cellular energy metabolism and, consequently, defects in
their function result in many characterized metabolic diseases. Critical for their function is …

Functional defects of the mitochondrial translation machinery, as a result of mutations in
nuclear-encoded genes, have been associated with combined oxidative phosphorylation …

Apoptosis, or controlled cell death, is a normal part of cellular lifespan. Cell death of
cochlear hair cells causes deafness; an apoptotic process that is not well understood …

PURPOSE OF REVIEW This article provides an overview of mitochondrial and metabolic
biology, the genetic mechanisms causing mitochondrial diseases, the clinical features of …