Ikeda Masashi, Kitajima Tsuyoshi, Iwata Nakao, Ozaki Norio
Department of Psychiatry, Fujita Health University School of Medicine, 1-98, Dengakugakubo, Kutsukake-cho, Toyoake, 470-1192 Japan.
Nihon Shinkei Seishin Yakurigaku Zasshi. 2002 Oct;22(5):137-43.
Mood disorders are common diseases and cause a big burden on society, including suicide. Because there are many treatment resistant cases in mood disorders, it is very important to elucidate the pathophysiology of this condition to establish its prevention and its treatment. Genetic epidemiological studies have shown that genetic factors have an important role in the pathophysiology of mood disorders; therefore the molecular genetics studies of this condition have been extensively performed, such as positional approach (i.e., linkage study) and candidate gene approach (i.e., association study). Linkage studies have shown some candidate locations that have been reproduced in two or more studies, such as 1q21-42, 4p16, 10q21-26, 11p15, 12q23-24, 13q11-32, 18p11, 18q21-22, 22q11-13, Xp11, and Xq24-28. Most association studies have until now focused on the neurotransmitter system as a candidate molecule including serotonin transporter, serotonin receptors, dopamine receptors, tyrosine hydroxylase, MAO-A, COMT, and tryptophan hydroxylase. Moreover, phamacogenetic studies also have been carried out in this field to develop new drugs as well as personalized medicine. Future molecular genetic studies will find out the mood-disorder susceptible genes and open the gate to true treatment and prevention of this disorder as the Human Genome Project attains its goal.
情绪障碍是常见疾病，会给社会带来巨大负担，包括自杀。由于情绪障碍中有许多难治性病例，阐明这种疾病的病理生理学对于确立其预防和治疗方法非常重要。遗传流行病学研究表明，遗传因素在情绪障碍的病理生理学中起着重要作用；因此，针对这种疾病的分子遗传学研究已经广泛开展，例如定位方法（即连锁研究）和候选基因方法（即关联研究）。连锁研究已经显示出一些在两项或更多研究中得到重复验证的候选位置，如1q21 - 42、4p16、10q21 - 26、11p15、12q23 - 24、13q11 - 32、18p11、18q21 - 22、22q11 - 13、Xp11和Xq24 - 28。到目前为止，大多数关联研究都集中在作为候选分子的神经递质系统上，包括血清素转运体、血清素受体、多巴胺受体、酪氨酸羟化酶、单胺氧化酶A、儿茶酚 - O - 甲基转移酶和色氨酸羟化酶。此外，该领域也开展了药物遗传学研究，以开发新药和个性化药物。随着人类基因组计划实现其目标，未来的分子遗传学研究将找出情绪障碍易感基因，并为真正治疗和预防这种疾病打开大门。
