Ewald H, Mors O, Eiberg H, Flint T, Kruse T A
Department of Psychiatric Demography, Psychiatric Hospital in Aarhus, Denmark.
Psychiatr Genet. 1995 Winter;5(4):161-9. doi: 10.1097/00041444-199524000-00003.
Dopa decarboxylase (DDC) is involved directly in the synthesis of dopamine and serotonin and indirectly in the synthesis of noradrenaline. The present study investigated two Danish families for linkage between manic depressive illness, a marker at the DDC locus which has been mapped to 7p11-p13 and 10 microsatellite markers covering chromosome 7q11-p15. No evidence of linkage was found assuming a dominant or a recessive mode of inheritance. We have earlier reported evidence against linkage between manic depressive illness and tyrosine hydroxylase and dopamine beta-hydroxylase. Mutations of major importance in the genes encoding the three enzymes involved in the synthesis of dopamine and noradrenaline seem less likely in the families we have studied. Further investigations of genetic and other pathophysiological mechanisms in relation to the monoamine hypotheses for manic depressive illness are still of relevance. There is a need for further linkage and association studies as well as a search for possible mutations in the relevant genes involved in the monoaminergic pathways to clarify their possible role in the aetiology of manic depressive illness.
多巴脱羧酶（DDC）直接参与多巴胺和5-羟色胺的合成，并间接参与去甲肾上腺素的合成。本研究调查了两个丹麦家庭，以研究躁郁症、位于7p11 - p13的DDC基因座标记以及覆盖7q11 - p15染色体的10个微卫星标记之间的连锁关系。在假设显性或隐性遗传模式的情况下，未发现连锁证据。我们之前曾报道过反对躁郁症与酪氨酸羟化酶和多巴胺β-羟化酶之间存在连锁关系的证据。在我们所研究的家庭中，编码参与多巴胺和去甲肾上腺素合成的三种酶的基因发生重大突变的可能性似乎较小。进一步研究与躁郁症单胺假说相关的遗传和其他病理生理机制仍然具有重要意义。需要进一步进行连锁和关联研究，并寻找单胺能途径中相关基因的可能突变，以阐明它们在躁郁症病因学中的可能作用。
