2012年10月9日 电 /生物谷BIOON/ --近日，麦吉尔大学研究人员发现人类基因组中的一小块区域在精神疾病和肥胖的发生发展过程中起到了重要作用。研究指出了脑源性神经营养因子的基因缺失与情绪和焦虑有关，脑源性神经营养因子是神经系统的生长因子，其在大脑发育中起着至关重要的作用。
为了确定脑源性神经营养因子在人类中的作用，麦吉尔大学精神病学系Carl Ernst教授等人筛选了35,000多名在诊所中进行基因筛查者和30,000多名正常对照者。总体而言，5名被确定是BDNF缺失的，这些人都是肥胖者，或有轻、中度智力障碍，或是情绪障碍者。科学家们一直试图找到基因组中哪个区域在人的精神病理学中发挥了作用，Ernst教授说，而该研究得出结论是脑源性神经营养因子基因组中某个区域确实与情绪和焦虑有关。
这项研究结果发表在Archives of General Psychiatry，研究第一次证实BDNF的缺失与认知和人体重的增加有联系。在动物实验研究的基础上，BDNF一直被怀疑有与大脑中的许多功能有联系，但没有确切研究表明当脑源性神经营养因子从人类基因组中丢失后，会带来什么影响。这项新研究便于更好的理解基因是如何参与调控人类行为和情绪的。
Ernst补充说：现在，我们确信了一条涉及精神病理学的分子途径，而这条分子途径涉及数千个基因参与了情绪、焦虑或肥胖的调控过程。在这项研究中，所有参与者有轻，中度智力残疾，但这些有认知问题的人并没有精神问题，所以BDNF的缺失到底对情绪有什么影响？现在研究人员希望测试是否提高BDNF的表达能改善焦虑或抑郁患者的大脑健康情况。（生物谷：Bioon.com）
doi:10.1001/archgenpsychiatry.2012.660
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Highly Penetrant Alterations of a Critical Region Including BDNF in Human Psychopathology and Obesity.
Ernst C, Marshall CR, Shen Y, et al.
McGill researchers have identified a small region in the genome that conclusively plays a role in the development of psychiatric disease and obesity. The key lies in the genomic deletion of brain-derived neurotrophic factor, or BDNF, a nervous system growth factor that plays a critical role in brain development.To determine the role of BDNF in humans, Prof. Carl Ernst, from McGill's Department of Psychiatry, Faculty of Medicine, screened over 35,000 people referred for genetic screening at clinics and over 30,000 control subjects in Canada, the U.S., and Europe. Overall, five individuals were identified with BDNF deletions, all of whom were obese, had a mild-moderate intellectual impairment, and had a mood disorder. Children had anxiety disorders, aggressive disorders, or attention deficit-hyperactivity disorder (ADHD), while post-pubescent subjects had anxiety and major depressive disorders. Subjects gradually gained weight as they aged, suggesting that obesity is a long-term process when BDNF is deleted.Scientists have been trying to find a region of the genome which plays a role in human psychopathology, searching for answers anywhere in our DNA that may give us a clue to the genetic causes of these types of disorders," says Prof. Ernst, who is also a researcher at the Douglas Mental Health University Institute. "Our study conclusively links a single region of the genome to mood and anxiety."The findings, published in the Archives of General Psychiatry, reveal for the first time the link between BDNF deletion, cognition, and weight gain in humans. BDNF has been suspected to have many functions in the brain based on animal studies, but no study had shown what happens when BDNF is missing from the human genome. This research provides a step toward better understanding human behaviour and mood by clearly identifying genes that may be involved in mental disorders.
