Mitochondrial defects in neurodegenerative disease.
Over the past 12 years, a wide variety of neurodegenerative diseases has been linked to mutations in mitochondrial genes located in either the mitochondrial DNA (mtDNA) or the nuclear DNA (nDNA). These disorders encompass an array of unorthodox inheritance patterns and a plethora of symptoms ranging from lethal neonatal multi-symptom disorders to later onset myopathies, cardiomyopathies, movement disorders, and dementias. The bases for the genetic and phenotypic variability of mitochondrial diseases lie in the multiplicity of the mitochondria genes dispersed across the human genome and the variety of cellular pathways and functions in which the mitochondria play a central role.
Wallace
D C
DC
Center for Molecular Medicine, Emory University School of Medicine, Atlanta, Georgia, USA.
D000375:Aging / Q000502:physiology; D017931:DNA Primers / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics; D006801:Humans; D017241:MELAS Syndrome / Q000235:genetics / Q000378:metabolism; D017243:MERRF Syndrome / Q000235:genetics / Q000378:metabolism; D028361:Mitochondrial Diseases / Q000235:genetics* / Q000378:metabolism; D019636:Neurodegenerative Diseases / Q000235:genetics; D017354:Point Mutation / Q000235:genetics
D017931:DNA Primers; D004272:DNA, Mitochondrial