Multiple deletions of mtDNA in two brothers with sideroblastic anemia and motochondrial myopathy and in their asymptomatic mother

Jordl Casademont, Antonal Barrientos, Francese Cardellach, Agnes Rötlg, Josep Maria Grau, Jullo Montoya, Belen Beltlran, Francisco Cervantes, Cirll Rozman, Xavier Estlvill, Alvaro Urbano-marque, Virginia Numes

Research output: Contribution to journalArticle

49 Scopus citations

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 languageEnglish (US)
Pages (from-to)1945-1949
Number of pages5
JournalHuman molecular genetics
Volume3
Issue number11
DOIs
StatePublished - Nov 1 1994
Externally publishedYes

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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    Casademont, J., Barrientos, A., Cardellach, F., Rötlg, A., Grau, J. M., Montoya, J., Beltlran, B., Cervantes, F., Rozman, C., Estlvill, X., Urbano-marque, A., & Numes, V. (1994). Multiple deletions of mtDNA in two brothers with sideroblastic anemia and motochondrial myopathy and in their asymptomatic mother. Human molecular genetics, 3(11), 1945-1949. https://doi.org/10.1093/hmg/3.11.1945