Defects of intergenomic communication: autosomal disorders that cause multiple deletions and depletion of mitochondrial DNA
Seminars in cell & developmental biology, 2001•Elsevier
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 …
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 …
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.
Elsevier
