Abstract
Two brothers presented with a clinical picture characterized by sideroblastic anemia, mild pancreatic insufficiency and progressive muscle weakness. The presence of an associated permanent basal lactic acidemia raised the suspicion of a mitochondrial disease. A muscle biopsy performed in both siblings proved the presence of a significant number of ragged-red fibers, and respiratory chain enzymatic determinations demonstrated a reduced activity of complexes I, III and IV. Mitochondrial DNA studies disclosed the presence of multiple deletions both in skeletal muscle and, to a lesser extent, in leukocytes. Similar, but not identical deletions were also present in the leukocytes and muscle from their mother. Deletions were flanked by short direct repeats. We conclude that such patients suffer from a familial form of mitochondrial disease clinically resembling Pearson's syndrome, with a probable autosomal dominant inheritance.
| Original language | English |
|---|---|
| Pages (from-to) | 1945-1949 |
| Number of pages | 5 |
| Journal | Human Molecular Genetics |
| Volume | 3 |
| Issue number | 11 |
| State | Published - Nov 1 1994 |
| Externally published | Yes |
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ASJC Scopus subject areas
- Genetics
- Statistics, Probability and Uncertainty
- Applied Mathematics
- Public Health, Environmental and Occupational Health
- Molecular Biology
- Genetics(clinical)
Cite this
Multiple deletions of mtDNA in two brothers with sideroblastic anemia and mitochondrial myopathy and in their asymptomatic mother. / Casademont, Jordi; Barrientos, Antonio; Cardellach, Francesc; Rötig, Agnés; Grau, Josep Maria; Montoya, Julio; Beltrán, Belén; Cervantes, Francisco; Rozman, Ciril; Estivill, Xavier; Urbano-Márquez, Alvaro; Nunes, Virginia.
In: Human Molecular Genetics, Vol. 3, No. 11, 01.11.1994, p. 1945-1949.Research output: Contribution to journal › Article
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TY - JOUR
T1 - Multiple deletions of mtDNA in two brothers with sideroblastic anemia and mitochondrial myopathy and in their asymptomatic mother
AU - Casademont, Jordi
AU - Barrientos, Antonio
AU - Cardellach, Francesc
AU - Rötig, Agnés
AU - Grau, Josep Maria
AU - Montoya, Julio
AU - Beltrán, Belén
AU - Cervantes, Francisco
AU - Rozman, Ciril
AU - Estivill, Xavier
AU - Urbano-Márquez, Alvaro
AU - Nunes, Virginia
PY - 1994/11/1
Y1 - 1994/11/1
N2 - Two brothers presented with a clinical picture characterized by sideroblastic anemia, mild pancreatic insufficiency and progressive muscle weakness. The presence of an associated permanent basal lactic acidemia raised the suspicion of a mitochondrial disease. A muscle biopsy performed in both siblings proved the presence of a significant number of ragged-red fibers, and respiratory chain enzymatic determinations demonstrated a reduced activity of complexes I, III and IV. Mitochondrial DNA studies disclosed the presence of multiple deletions both in skeletal muscle and, to a lesser extent, in leukocytes. Similar, but not identical deletions were also present in the leukocytes and muscle from their mother. Deletions were flanked by short direct repeats. We conclude that such patients suffer from a familial form of mitochondrial disease clinically resembling Pearson's syndrome, with a probable autosomal dominant inheritance.
AB - Two brothers presented with a clinical picture characterized by sideroblastic anemia, mild pancreatic insufficiency and progressive muscle weakness. The presence of an associated permanent basal lactic acidemia raised the suspicion of a mitochondrial disease. A muscle biopsy performed in both siblings proved the presence of a significant number of ragged-red fibers, and respiratory chain enzymatic determinations demonstrated a reduced activity of complexes I, III and IV. Mitochondrial DNA studies disclosed the presence of multiple deletions both in skeletal muscle and, to a lesser extent, in leukocytes. Similar, but not identical deletions were also present in the leukocytes and muscle from their mother. Deletions were flanked by short direct repeats. We conclude that such patients suffer from a familial form of mitochondrial disease clinically resembling Pearson's syndrome, with a probable autosomal dominant inheritance.
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M3 - Article
C2 - 7874110
AN - SCOPUS:0028109484
VL - 3
SP - 1945
EP - 1949
JO - Human Molecular Genetics
JF - Human Molecular Genetics
SN - 0964-6906
IS - 11
ER -