Plasma amine oxidase activities in Norrie disease patients with an X-chromosomal deletion affecting monoamine oxidase.
J Neural Transm Gen Sect
; 83(1-2): 1-12, 1991.
Article
en En
| MEDLINE
| ID: mdl-2018626
ABSTRACT
Two individuals with an X-chromosomal deletion were recently found to lack the genes encoding monoamine oxidase type A (MAO-A) and MAO-B. This abnormality was associated with almost total (90%) reductions in the oxidatively deaminated urinary metabolites of the MAO-A substrate, norepinephrine, and with marked (100-fold) increases in an MAO-B substrate, phenylethylamine, confirming systemic functional consequences of the genetic enzyme deficiency. However, urinary concentrations of the deaminated metabolites of dopamine and serotonin (5-HT) were essentially normal. To investigate other deaminating systems besides MAO-A and MAO-B that might produce these metabolites of dopamine and 5-HT, we examined plasma amine oxidase (AO) activity in these two patients and two additional patients with the same X-chromosomal deletion. Normal plasma AO activity was found in all four Norrie disease-deletion patients, in four patients with classic Norrie disease without a chromosomal deletion, and in family members of patients from both groups. Marked plasma amine metabolite abnormalities and essentially absent platelet MAO-B activity were found in all four Norrie disease-deletion patients, but in none of the other subjects in the two comparison groups. These results indicate that plasma AO is encoded by gene(s) independent of those for MAO-A and MAO-B, and raise the possibility that plasma AO, and perhaps the closely related tissue AO, benzylamine oxidase, as well as other atypical AOs or MAOs encoded independently from MAO-A and MAO-B may contribute to the oxidative deamination of dopamine and 5-HT in humans.
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Base de datos:
MEDLINE
Asunto principal:
Retina
/
Aberraciones Cromosómicas Sexuales
/
Dopamina
/
Serotonina
/
Ceguera
/
Amina Oxidasa (conteniendo Cobre)
/
Oxidorreductasas actuantes sobre Donantes de Grupo CH-NH
/
Monoaminooxidasa
Límite:
Adolescent
/
Adult
/
Female
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Humans
/
Male
Idioma:
En
Revista:
J Neural Transm Gen Sect
Año:
1991
Tipo del documento:
Article
País de afiliación:
Moldova