TY - JOUR
T1 - Searching for genes affecting the structural integrity of the mitochondrial genome
AU - Zeviani, Massimo
AU - Amati, Patrizia
AU - Comi, Giacomo
AU - Fratta, Giovanni
AU - Mariotti, Caterina
AU - Tiranti, Valeria
PY - 1995/5/24
Y1 - 1995/5/24
N2 - Mendelian traits associated with qualitative or quantitative abnormalities of mtDNA are presumably caused by mutations in nucleus-encoded genes that deleteriously interact with the mitochondrial genome. Qualitative abnormalities of mtDNA are typically represented by pleioplasmic multiple mtDNA deletions, that are detected in stable tissues, including skeletal muscle, of patients affected by Autosomal Dominant Chronic Progressive External Ophthalmoplegia. Quantitative abnormalities are represented by tissue-specific depletion of mtDNA, associated with different clinical presentations in infancy or childhood. Linkage analysis and search for candidate genes are two complementary strategies aimed at identifying the genes responsible for these disorders.
AB - Mendelian traits associated with qualitative or quantitative abnormalities of mtDNA are presumably caused by mutations in nucleus-encoded genes that deleteriously interact with the mitochondrial genome. Qualitative abnormalities of mtDNA are typically represented by pleioplasmic multiple mtDNA deletions, that are detected in stable tissues, including skeletal muscle, of patients affected by Autosomal Dominant Chronic Progressive External Ophthalmoplegia. Quantitative abnormalities are represented by tissue-specific depletion of mtDNA, associated with different clinical presentations in infancy or childhood. Linkage analysis and search for candidate genes are two complementary strategies aimed at identifying the genes responsible for these disorders.
KW - Mitochondrial DNA
KW - Mitochondrial myopathy
KW - mtDNA deletion
KW - mtDNA depletion
KW - mtDNA replication
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U2 - 10.1016/0925-4439(95)00022-V
DO - 10.1016/0925-4439(95)00022-V
M3 - Article
C2 - 7599202
AN - SCOPUS:0029027557
VL - 1271
SP - 153
EP - 158
JO - Biochimica et Biophysica Acta - Molecular Basis of Disease
JF - Biochimica et Biophysica Acta - Molecular Basis of Disease
SN - 0925-4439
IS - 1
ER -