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

Jordi Casademont, Antonio Barrientos, Francesc Cardellach, Agnés Rötig, Josep Maria Grau, Julio Montoya, Belén Beltrán, Francisco Cervantes, Ciril Rozman, Xavier Estivill, Alvaro Urbano-Márquez, Virginia Nunes

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
StatePublished - Nov 1 1994
Externally publishedYes

Fingerprint

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

ASJC Scopus subject areas

  • Genetics
  • Statistics, Probability and Uncertainty
  • Applied Mathematics
  • Public Health, Environmental and Occupational Health
  • Molecular Biology
  • Genetics(clinical)

Cite this

Casademont, J., Barrientos, A., Cardellach, F., Rötig, A., Grau, J. M., Montoya, J., ... Nunes, V. (1994). Multiple deletions of mtDNA in two brothers with sideroblastic anemia and mitochondrial myopathy and in their asymptomatic mother. Human Molecular Genetics, 3(11), 1945-1949.

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 journalArticle

Casademont, J, Barrientos, A, Cardellach, F, Rötig, A, Grau, JM, Montoya, J, Beltrán, B, Cervantes, F, Rozman, C, Estivill, X, Urbano-Márquez, A & Nunes, V 1994, 'Multiple deletions of mtDNA in two brothers with sideroblastic anemia and mitochondrial myopathy and in their asymptomatic mother', Human Molecular Genetics, vol. 3, no. 11, pp. 1945-1949.
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. / Multiple deletions of mtDNA in two brothers with sideroblastic anemia and mitochondrial myopathy and in their asymptomatic mother. In: Human Molecular Genetics. 1994 ; Vol. 3, No. 11. pp. 1945-1949.
@article{b445f6095d1a42f1b778b071da615b29,
title = "Multiple deletions of mtDNA in two brothers with sideroblastic anemia and mitochondrial myopathy and in their asymptomatic mother",
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.",
author = "Jordi Casademont and Antonio Barrientos and Francesc Cardellach and Agn{\'e}s R{\"o}tig and Grau, {Josep Maria} and Julio Montoya and Bel{\'e}n Beltr{\'a}n and Francisco Cervantes and Ciril Rozman and Xavier Estivill and Alvaro Urbano-M{\'a}rquez and Virginia Nunes",
year = "1994",
month = "11",
day = "1",
language = "English",
volume = "3",
pages = "1945--1949",
journal = "Human Molecular Genetics",
issn = "0964-6906",
publisher = "Oxford University Press",
number = "11",

}

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.

UR - http://www.scopus.com/inward/record.url?scp=0028109484&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0028109484&partnerID=8YFLogxK

M3 - Article

VL - 3

SP - 1945

EP - 1949

JO - Human Molecular Genetics

JF - Human Molecular Genetics

SN - 0964-6906

IS - 11

ER -