Affiliations: Division of Pediatric Neurology, Seattle Children's
Hospital, University of Washington, Seattle, WA, USA
Note: [] Corresponding author: Russell P. Saneto, Division of Pediatric
Neurology, Seattle Children's Hospital, University of Washington, 4800 Sand
Point Way NE, Seattle, WA 98105, USA. Tel.: +1 206 987 2078; Fax: +1 206 987
2649; E-mail: [email protected]
Abstract: Mitochondrial disease has only been genetically defined since the
late 1980's, yet the pathophysiology of mitochondrial function and genetics has
altered the way we think of disease. Mitochondria have their own DNA and are
independent replicating organelles that are bound to the energetic needs of
cells. Diseases due to alteration in mitochondrial DNA are inherited
exclusively via maternal inheritance. But disease can also be inherited in a
Mendelian fashion. The cross-talk between genomes can create a wide variety of
diseases by altering mitochondrial function and hence, diminishing the
availability of energy for cellular metabolism. As one would expect, the
developing infant and/or child would have the greatest dependency on the need
for energy to ensure proper development. Indeed, defects in mitochondrial
function produce the most common inborn error of metabolism leading to disease.
This review will highlight the pathophysiology behind mitochondrial dysfunction
as well as describe the most common of the group of mitochondrial diseases
found in this age range.
Keywords: Mitochondria, electron transport chain, human disease, mitochondrial DNA, mitochondrial disease
