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 P. Estivill, Alvaro Urbano-marque, Virginia Numes

Research output: Contribution to journalArticle

49 Citations (Scopus)

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
Pages (from-to)1945-1949
Number of pages5
JournalHuman Molecular Genetics
Volume3
Issue number11
DOIs
Publication statusPublished - Nov 1994
Externally publishedYes

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Sideroblastic Anemia
Mitochondrial Diseases
Muscular Diseases
Mitochondrial DNA
Siblings
Leukocytes
Mothers
Exocrine Pancreatic Insufficiency
Muscles
Nucleic Acid Repetitive Sequences
Muscle Weakness
Electron Transport
Milk
Skeletal Muscle
Biopsy

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

Cite this

Casademont, J., Barrientos, A., Cardellach, F., Rötlg, A., Grau, J. M., Montoya, J., ... 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

Multiple deletions of mtDNA in two brothers with sideroblastic anemia and motochondrial myopathy and in their asymptomatic mother. / Casademont, Jordl; Barrientos, Antonal; Cardellach, Francese; Rötlg, Agnes; Grau, Josep Maria; Montoya, Jullo; Beltlran, Belen; Cervantes, Francisco; Rozman, Cirll; Estivill, Xavier P.; Urbano-marque, Alvaro; Numes, Virginia.

In: Human Molecular Genetics, Vol. 3, No. 11, 11.1994, p. 1945-1949.

Research output: Contribution to journalArticle

Casademont, J, Barrientos, A, Cardellach, F, Rötlg, A, Grau, JM, Montoya, J, Beltlran, B, Cervantes, F, Rozman, C, Estivill, XP, 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, vol. 3, no. 11, pp. 1945-1949. https://doi.org/10.1093/hmg/3.11.1945
Casademont, Jordl ; Barrientos, Antonal ; Cardellach, Francese ; Rötlg, Agnes ; Grau, Josep Maria ; Montoya, Jullo ; Beltlran, Belen ; Cervantes, Francisco ; Rozman, Cirll ; Estivill, Xavier P. ; Urbano-marque, Alvaro ; Numes, Virginia. / Multiple deletions of mtDNA in two brothers with sideroblastic anemia and motochondrial myopathy and in their asymptomatic mother. In: Human Molecular Genetics. 1994 ; Vol. 3, No. 11. pp. 1945-1949.
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