Abstract
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.
| Original language | English |
|---|---|
| Pages (from-to) | 153-158 |
| Number of pages | 6 |
| Journal | Biochimica et Biophysica Acta - Molecular Basis of Disease |
| Volume | 1271 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - May 24 1995 |
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Keywords
- Mitochondrial DNA
- Mitochondrial myopathy
- mtDNA deletion
- mtDNA depletion
- mtDNA replication
ASJC Scopus subject areas
- Molecular Biology
- Molecular Medicine
- Biophysics
Cite this
Searching for genes affecting the structural integrity of the mitochondrial genome. / Zeviani, Massimo; Amati, Patrizia; Comi, Giacomo; Fratta, Giovanni; Mariotti, Caterina; Tiranti, Valeria.
In: Biochimica et Biophysica Acta - Molecular Basis of Disease, Vol. 1271, No. 1, 24.05.1995, p. 153-158.Research output: Contribution to journal › Article
}
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
UR - http://www.scopus.com/inward/record.url?scp=0029027557&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0029027557&partnerID=8YFLogxK
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 -