Análisis de 6 mutaciones leber en 31 individuos con atrofia óptica. Estudio de su transmisión en 5 familias

Translated title of the contribution: Leber's hereditary optic neuropathy mutations in 31 Spanish individuals affected by optic atrophy; segregation studies in 5 families

Montserrat Gómez Zaera, Antoni Barrientos, Luis Arias, Isabel Rojas, Jordi Arruga, Xavier P. Estivill, Jordi Casademont, Virginia Nunes

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

BACKGROUND: Leber's hereditary optic neuropathy (LHON) is a mitochondrial disorder that represents the most frequent cause of visual loss among otherwise healthy young men. PATIENTS AND METHODS: We have screened for the most important LHON mutations (primary mutations) and several other previously described mutations (secondary mutations) in 31 Spanish patients suffering from optic atrophy. These individuals fulfilled the clinical criteria for LHON. We have compared the mutation frequencies obtained with those reported in several other countries. We have also followed the segregation of the disease and its associated LHON mutations in five families. The screening has been performed by PCR followed by restriction enzyme digestions and electrophoretic separation. RESULTS: 67.75% of the patients did not harbour any of the studied mutations, whereas 16.13% showed one mutation and the remaining 16.13% carried two Leber mutations in their mitochondrial DNA. The three primary mutations as well as G15257A were the changes most frequently detected (30% each of them). There were no significant differences among the compared populations in terms of frequencies of the primary mutations. In contrast, our patients showed a significantly higher rate of 15257 mutation. CONCLUSIONS: The incidence of primary LHON mutations among the Spanish patients is not statistically different from those observed in other Caucasian populations. Transmission of the mutation to the progeny is not necessarily linked to the transmission of the disease. This fact complicates genetic counselling and makes prenatal diagnosis almost impossible for this disease.

Original languageSpanish
Pages (from-to)326-329
Number of pages4
JournalMedicina Clinica
Volume112
Issue number9
Publication statusPublished - 13 Mar 1999
Externally publishedYes

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Leber's Hereditary Optic Atrophy
Optic Atrophy
Mutation
Mutation Rate
Mitochondrial Diseases
Genetic Counseling
Prenatal Diagnosis
Mitochondrial DNA
Population
Digestion

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Gómez Zaera, M., Barrientos, A., Arias, L., Rojas, I., Arruga, J., Estivill, X. P., ... Nunes, V. (1999). Análisis de 6 mutaciones leber en 31 individuos con atrofia óptica. Estudio de su transmisión en 5 familias. Medicina Clinica, 112(9), 326-329.

Análisis de 6 mutaciones leber en 31 individuos con atrofia óptica. Estudio de su transmisión en 5 familias. / Gómez Zaera, Montserrat; Barrientos, Antoni; Arias, Luis; Rojas, Isabel; Arruga, Jordi; Estivill, Xavier P.; Casademont, Jordi; Nunes, Virginia.

In: Medicina Clinica, Vol. 112, No. 9, 13.03.1999, p. 326-329.

Research output: Contribution to journalArticle

Gómez Zaera, M, Barrientos, A, Arias, L, Rojas, I, Arruga, J, Estivill, XP, Casademont, J & Nunes, V 1999, 'Análisis de 6 mutaciones leber en 31 individuos con atrofia óptica. Estudio de su transmisión en 5 familias', Medicina Clinica, vol. 112, no. 9, pp. 326-329.
Gómez Zaera M, Barrientos A, Arias L, Rojas I, Arruga J, Estivill XP et al. Análisis de 6 mutaciones leber en 31 individuos con atrofia óptica. Estudio de su transmisión en 5 familias. Medicina Clinica. 1999 Mar 13;112(9):326-329.
Gómez Zaera, Montserrat ; Barrientos, Antoni ; Arias, Luis ; Rojas, Isabel ; Arruga, Jordi ; Estivill, Xavier P. ; Casademont, Jordi ; Nunes, Virginia. / Análisis de 6 mutaciones leber en 31 individuos con atrofia óptica. Estudio de su transmisión en 5 familias. In: Medicina Clinica. 1999 ; Vol. 112, No. 9. pp. 326-329.
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abstract = "BACKGROUND: Leber's hereditary optic neuropathy (LHON) is a mitochondrial disorder that represents the most frequent cause of visual loss among otherwise healthy young men. PATIENTS AND METHODS: We have screened for the most important LHON mutations (primary mutations) and several other previously described mutations (secondary mutations) in 31 Spanish patients suffering from optic atrophy. These individuals fulfilled the clinical criteria for LHON. We have compared the mutation frequencies obtained with those reported in several other countries. We have also followed the segregation of the disease and its associated LHON mutations in five families. The screening has been performed by PCR followed by restriction enzyme digestions and electrophoretic separation. RESULTS: 67.75{\%} of the patients did not harbour any of the studied mutations, whereas 16.13{\%} showed one mutation and the remaining 16.13{\%} carried two Leber mutations in their mitochondrial DNA. The three primary mutations as well as G15257A were the changes most frequently detected (30{\%} each of them). There were no significant differences among the compared populations in terms of frequencies of the primary mutations. In contrast, our patients showed a significantly higher rate of 15257 mutation. CONCLUSIONS: The incidence of primary LHON mutations among the Spanish patients is not statistically different from those observed in other Caucasian populations. Transmission of the mutation to the progeny is not necessarily linked to the transmission of the disease. This fact complicates genetic counselling and makes prenatal diagnosis almost impossible for this disease.",
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AU - Rojas, Isabel

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AU - Estivill, Xavier P.

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