PLASMA AMINE OXIDASE ACTIVITIES IN NORRIE DISEASE PATIENTS WITH AN X-CHROMOSOMAL DELETION AFFECTING MONOAMINE-OXIDASE

被引:28
作者
MURPHY, DL
SIMS, KB
KAROUM, F
GARRICK, NA
DELACHAPELLE, A
SANKILA, EM
NORIO, R
BREAKEFIELD, XO
机构
[1] EUNICE KENNEDY SHRIVER CTR MENTAL RETARDAT INC,DIV MOLEC NEUROGENET,WALTHAM,MA
[2] MASSACHUSETTS GEN HOSP,MOLEC NEUROGENET UNIT NEUROL,BOSTON,MA 02114
[3] NIMH,ST ELIZABETHS HOSP,CTR NEUROSCI,WASHINGTON,DC 20032
[4] UNIV HELSINKI,DEPT MED GENET,SF-00100 HELSINKI 10,FINLAND
[5] VAESTOELIITTO,DEPT MED GENET,HELSINKI,FINLAND
[6] HARVARD UNIV,SCH MED,NEUROSCI PROGRAM,BOSTON,MA 02115
关键词
BENZYLAMINE; DOPAMINE; SEROTONIN; GENETICS;
D O I
10.1007/BF01244447
中图分类号
Q189 [神经科学];
学科分类号
071006 ;
摘要
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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页码:1 / 12
页数:12
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