Oftalmoplejía externa progresiva y síndrome de Kearns-Sayre

estudio clínico y molecular de 6 casos.

Translated title of the contribution: Progressive external ophthalmoplegia and the Kearns-Sayre syndrome: a clinical and molecular study of 6 cases

Antonio Barrientos, J. Casademont, J. M. Grau, F. Cardellach, J. Montoya, X. Estivill, A. Urbano-Márquez, V. Nunes

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

The Kearns-Sayre syndrome (KSS) associates progressive external ophthalmoplegia initiating prior to the age of 20 years and pigmentary retinitis with a series of other heterogeneous clinical manifestations. The incomplete syndrome is usually denominated progressive external ophthalmoplegia (PEO)-plus which is a sporadically appearing mitochondrial cytopathy associated with large deletions of a variable proportion of mitochondrial DNA (mtDNA) molecules. Six patients with PEO-plus/KSS in whom muscle biopsy was performed following a complete clinical study are described. The muscle was processed by conventional histochemical techniques, electron microscopy, and genetic study (Southern transference, polymerase chain reaction, restriction cartography and both manual and automatic sequencing). The percentage of mutated mtDNA molecules for each patient was obtained by densitometry. The 6 patients presented multiorganic clinical manifestations characteristics of most mitochondrial diseases. The presence of destructured red fibers were observed in all the biopsies. All the patients presented a deletion in the mtDNA of a size between 4,861 to 7,437 base pairs (bp). All the deletions appeared flanked by direct repetitions from 4 to 13 bp and one also presented inverse repetitions from 5 to 6 bp in the zone next to the rupture point. In the 6 cases heteroplasmia was observed with a variable percentage of deleted molecules from 23 to 56%. The molecular basis of progressive external ophthalmoplegia-plus/Kearns-Sayre syndrome appears to be the existence of sole, large deletions in the mitochondrial DNA with the varying in location and percentage conditioning the appearance of different phenotypes similar among themselves. The 7,437 base pair deletion was the most frequently observed in the patients analyzed.

Original languageSpanish
Pages (from-to)180-184
Number of pages5
JournalMedicina Clinica
Volume105
Issue number5
StatePublished - Jul 1 1995
Externally publishedYes

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Kearns-Sayre Syndrome
Chronic Progressive External Ophthalmoplegia
Mitochondrial DNA
Base Pairing
Retinitis
Biopsy
Mitochondrial Diseases
Muscles
Densitometry
Rupture
Electron Microscopy
Clinical Studies
Phenotype
Polymerase Chain Reaction

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Barrientos, A., Casademont, J., Grau, J. M., Cardellach, F., Montoya, J., Estivill, X., ... Nunes, V. (1995). Oftalmoplejía externa progresiva y síndrome de Kearns-Sayre: estudio clínico y molecular de 6 casos. Medicina Clinica, 105(5), 180-184.

Oftalmoplejía externa progresiva y síndrome de Kearns-Sayre : estudio clínico y molecular de 6 casos. / Barrientos, Antonio; Casademont, J.; Grau, J. M.; Cardellach, F.; Montoya, J.; Estivill, X.; Urbano-Márquez, A.; Nunes, V.

In: Medicina Clinica, Vol. 105, No. 5, 01.07.1995, p. 180-184.

Research output: Contribution to journalArticle

Barrientos, A, Casademont, J, Grau, JM, Cardellach, F, Montoya, J, Estivill, X, Urbano-Márquez, A & Nunes, V 1995, 'Oftalmoplejía externa progresiva y síndrome de Kearns-Sayre: estudio clínico y molecular de 6 casos.', Medicina Clinica, vol. 105, no. 5, pp. 180-184.
Barrientos A, Casademont J, Grau JM, Cardellach F, Montoya J, Estivill X et al. Oftalmoplejía externa progresiva y síndrome de Kearns-Sayre: estudio clínico y molecular de 6 casos. Medicina Clinica. 1995 Jul 1;105(5):180-184.
Barrientos, Antonio ; Casademont, J. ; Grau, J. M. ; Cardellach, F. ; Montoya, J. ; Estivill, X. ; Urbano-Márquez, A. ; Nunes, V. / Oftalmoplejía externa progresiva y síndrome de Kearns-Sayre : estudio clínico y molecular de 6 casos. In: Medicina Clinica. 1995 ; Vol. 105, No. 5. pp. 180-184.
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