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Arquivos de Neuro-Psiquiatria

Print version ISSN 0004-282X

Arq. Neuro-Psiquiatr. vol.55 no.2 São Paulo June 1997

https://doi.org/10.1590/S0004-282X1997000200013 

Caracterização de miopatias mitocondriais através da avaliação das atividades enzimáticas envolvidas no metabolismo energético

 

Characterization of mitochondrial myopathies through the evaluation of the enzymatic activities involved in the energetic metabolism

 

 

Fábio Cesar PedrosoI; Annibal P. CampelloI; Lineu Cesar WerneckII; Maria Lúcia W. KlüppelI

IDepartamento de Bioquímica Universidade Federal do Paraná (UFPR)
IIClínica Médica Universidade Federal do Paraná (UFPR)

 

 


RESUMO

Foi determinada a atividade das enzimas NADH desidiogenase, NADH citocromo e redutase, succinato desidiogenase, succinato citocromo e redutase, citocromo e oxidase e citrato sintase em mitocôndrias de músculo esquelético humano normal e doente (suspeito de miopatia mitocondrial). O grupo controle foi constituído de 13 indivíduos normais e que não faziam uso contínuo de fárrnacos. O grupo doente era constituído de 10 pacientes cujo diagnóstico anatomopatológico indicava suspeita de miopatia mitocondrial. Observou-se redução na atividade das enzimas em todos os pacientes: 7 com anormalidades em todas as enzimas ensaiadas; 2 com deficiências em todas as enzimas exceto na citocromo e oxidase; e 1 paciente com disfunção apenas na atividade da succinato desidiogenase e succinato citocromo e redutase. Este perfil possibilitou caracterizar múltiplas deficiências ou deficiência combinada da cadeia respiratória, além da disfunção na citrato sintase em 9 pacientes. Um dos casos constituiu exceção, sendo a deficiência enzimática restrita ao complexo II. Foi possível concluir que a metodologia usada é adequada e facilmente aplicável aos objetivos clínicos. Os resultados obtidos possibilitam a caracterização dos complexos enzimáticos mitocondriais deficientes, mostrando que tais enfermidades são originadas de disfunção no metabolismo energético.

Palavras-chave: mitocôndria, músculo esquelético humano, miopatia mitocondrial, NADH desidiogenase, NADH citocromo e redutase, succinato desidrogenase. succinato citocromo e redutase, citocromo e oxidase, citrato sintase.


ABSTRACT

The activities of the enzymes NADH dehydrogenase, NADH cytochrome e reductase, succinate dehydrogenase, succinate cytochrome e reductase, cytochrome e oxidase and citrate synthase in normal and sick human skeletal muscle mitochondria were determined. A control group was formed by 13 normal people and without using continuous medication. The patient group was formed by 10 people whose pathological diagnosis indicated suspicion of mitochondrial myopathy. A decrease in the activity of the enzymes in all patient was observed: 7 with abnormality in all the tested enzymes; 2 with deficiencies in all the enzymes except cytochrome e oxidase; and 1 with dysfunction only in the activities of succinate dehydrogenase and succinate cytochrome e reductase. The results indicate multiple or combined deficiencies in the respiratory chain, besides dysfunction of citrate synthase in 9 patients. In one exceptional case, the enzymatic deficiency was restricted to complex II. It is possible to conclude that the methodology used herein is adequate and easily applicable to clinical objectives, and that the results obtained allow characterization of the deficient mitochondrial enzymatic complexes, thus showing that the origin of the diseases is an energetic metabolic dysfunction.

Key words: mitochondria human skeletal muscle, mitochondrial myopathy, NADH cytochrome e reductase, NADH dehydrogenase, succinate dehydrogenase, succinate cytochrome e reductase, cytochrome c oxidase citrate synthase.


 

 

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Aceite: 15-janeiro-I997.

 

 

Dr. Annibal P. Campello - Departamento de Bioquímica, UFPR - Caixa Postal 19046 - 81531-990 Curitiba PR - Brasil.
Estudo realizado com auxílio do Conselho Nacional de Desenvolvimento Científico e Tecnológico - CNPq (Proc. nº 52.1478/96,30.0738/ 87).

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