Mitochondrial DNA LHON mutations in alcoholic patients developing amblyopia

Montse Gomez Zaera, Òscar Miró, Luis Arias, Antoni Barrientos, Isabel Rojas, Jordi Arruga, Xavier P. Estivill, Jordi Casademont, Virginia Nunes

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

Tobacco-alcohol amblyopia (TAA) is characterized by chronic painless bilateral central visual loss and cecocentral scotomas. It usually presents in men with heavy alcohol and/or tobacco consumption. Leber's hereditary optic neuropathy (LHON) is maternally transmitted and shares many of the clinical symptoms of tobacco-alcohol amblyopia. It has been associated to several mitochondrial DNA (mtDNA) mutations. Several LHON mutations were analyzed in three groups of individuals: amblyopic alcoholics, non-amblyopic alcoholics and non-alcoholic normal individuals. Toxicological history and anthropometrical parameters of the alcohol consumers were recorded. Nutritional parameters and vitamin status were determined in peripheral blood samples. Total DNA was isolated also from peripheral blood and it was used for the molecular genetic analysis of LHON mutations. Age, anthropometrical parameters, nutritional measurements and tobacco consumption were similar in both groups of alcoholics. Similarly, alcohol intake was equivalent in both groups. Primary LHON mutations were only found among amblyopic alcoholics. Moreover, the proportion of them that presented two or more secondary mutations was higher than in non-amblyopic individuals or controls, indicating that secondary LHON mutations would act synergically in the outcome of some cases of amblyopia. Alcohol intake may enhance the susceptibility to develop amblyopia in individuals who harbour primary or more than one secondary LHON mutation.

Original languageEnglish
Pages (from-to)23-33
Number of pages11
JournalAlcoholism
Volume35
Issue number1-2
Publication statusPublished - 1999
Externally publishedYes

Fingerprint

Leber's Hereditary Optic Atrophy
Amblyopia
Alcoholics
Mitochondrial DNA
Mutation
Alcohols
Tobacco Use
Tobacco
Scotoma
Vitamins
Alcohol Drinking
Toxicology
Molecular Biology
History
DNA

Keywords

  • Alcohol abuse
  • Amblyopia
  • LHON mutation
  • mtDNA
  • Nutritional deficiency

ASJC Scopus subject areas

  • Medicine (miscellaneous)
  • Psychiatry and Mental health

Cite this

Zaera, M. G., Miró, Ò., Arias, L., Barrientos, A., Rojas, I., Arruga, J., ... Nunes, V. (1999). Mitochondrial DNA LHON mutations in alcoholic patients developing amblyopia. Alcoholism, 35(1-2), 23-33.

Mitochondrial DNA LHON mutations in alcoholic patients developing amblyopia. / Zaera, Montse Gomez; Miró, Òscar; Arias, Luis; Barrientos, Antoni; Rojas, Isabel; Arruga, Jordi; Estivill, Xavier P.; Casademont, Jordi; Nunes, Virginia.

In: Alcoholism, Vol. 35, No. 1-2, 1999, p. 23-33.

Research output: Contribution to journalArticle

Zaera, MG, Miró, Ò, Arias, L, Barrientos, A, Rojas, I, Arruga, J, Estivill, XP, Casademont, J & Nunes, V 1999, 'Mitochondrial DNA LHON mutations in alcoholic patients developing amblyopia', Alcoholism, vol. 35, no. 1-2, pp. 23-33.
Zaera MG, Miró Ò, Arias L, Barrientos A, Rojas I, Arruga J et al. Mitochondrial DNA LHON mutations in alcoholic patients developing amblyopia. Alcoholism. 1999;35(1-2):23-33.
Zaera, Montse Gomez ; Miró, Òscar ; Arias, Luis ; Barrientos, Antoni ; Rojas, Isabel ; Arruga, Jordi ; Estivill, Xavier P. ; Casademont, Jordi ; Nunes, Virginia. / Mitochondrial DNA LHON mutations in alcoholic patients developing amblyopia. In: Alcoholism. 1999 ; Vol. 35, No. 1-2. pp. 23-33.
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