TY - JOUR
T1 - Mitochondrial DNA mutations in human degenerative diseases and aging
AU - Wallace, Douglas C.
AU - Shoffner, John M.
AU - Trounce, Ian
AU - Brown, Michael D.
AU - Ballinger, Scott W.
AU - Corral-Debrinski, Marisol
AU - Horton, Terzah
AU - Jun, Albert S.
AU - Lott, Marie T.
N1 - Funding Information:
Since the relatively sever np 14459 mutation causes pediatric onset movement disorders, it follows that milder mtDNA mutations might cause later-onset disease. Support for this hypothesis has been supported by screening Alzheimer and Parkinson disease patients for potentially deleterious mtDNA mutations.
PY - 1995/5/24
Y1 - 1995/5/24
N2 - A wide variety of mitochondrial DNA (mtDNA) mutations have recently been identified in degenerative diseases of the brain, heart, skeletal muscle, kidney and endocrine system. Generally, individuals inheriting these mitochondrial diseases are relatively normal in early life, develop symptoms during childhood, mid-life, or old age depending on the severity of the maternally-inherited mtDNA mutation; and then undergo a progressive decline. These novel features of mtDNA disease are proposed to be the product of the high dependence of the target organs on mitochondrial bioenergetics, and the cumulative oxidative phosphorylation (OXPHOS) defect caused by the inherited mtDNA mutation together with the age-related accumulation mtDNA mutations in post-mitotic tissues.
AB - A wide variety of mitochondrial DNA (mtDNA) mutations have recently been identified in degenerative diseases of the brain, heart, skeletal muscle, kidney and endocrine system. Generally, individuals inheriting these mitochondrial diseases are relatively normal in early life, develop symptoms during childhood, mid-life, or old age depending on the severity of the maternally-inherited mtDNA mutation; and then undergo a progressive decline. These novel features of mtDNA disease are proposed to be the product of the high dependence of the target organs on mitochondrial bioenergetics, and the cumulative oxidative phosphorylation (OXPHOS) defect caused by the inherited mtDNA mutation together with the age-related accumulation mtDNA mutations in post-mitotic tissues.
KW - Mitochondrion
KW - Oxidative phosphorylation
KW - mtDNA mutation
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U2 - 10.1016/0925-4439(95)00021-U
DO - 10.1016/0925-4439(95)00021-U
M3 - Article
C2 - 7599200
AN - SCOPUS:0029071513
SN - 0925-4439
VL - 1271
SP - 141
EP - 151
JO - BBA - Molecular Basis of Disease
JF - BBA - Molecular Basis of Disease
IS - 1
ER -