Defects of intergenomic communication: autosomal disorders that cause multiple deletions and depletion of mitochondrial DNA.
Depletion and multiple deletions of mitochondrial DNA (mtDNA) have been associated with a growing number of autosomal diseases that have been classified as defects of intergenomic communication. MNGIE, an autosomal recessive disorder associated with mtDNA alterations is due to mutations in thymidine phosphorylase that may cause imbalance of the mitochondrial nucleotide pool. Subsequently, mutations in the mitochondrial proteins adenine nucleotide translocator 1, Twinkle, and polymerase gamma have been found to cause autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA. Uncovering the molecular bases of intergenomic communication defects will enhance our understanding of the mechanisms responsible for maintaining mtDNA integrity.
Hirano
M
M
Department of Neurology, Columbia University College of Physicians and Surgeons, 630 West 168th Street, New York, NY 10032, USA. mh29@columbia.edu
Marti
R
R
Ferreiro-Barros
C
C
Vilà
M R
MR
Tadesse
S
S
Nishigaki
Y
Y
Nishino
I
I
Vu
T H
TH
D025063:Chromosome Disorders / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans; D028361:Mitochondrial Diseases / Q000235:genetics / Q000378:metabolism; D017237:Mitochondrial Encephalomyopathies / Q000235:genetics; D008957:Models, Genetic
D004272:DNA, Mitochondrial