Division of Genetics, Department of Neurology, Howard Hughes Medical Institute, Children's Hospital, Boston, MA 02115, USA.
Neuron. 2010 Oct 21;68(2):245-53. doi: 10.1016/j.neuron.2010.09.042.
One of the biggest challenges in neuroscience is illuminating the architecture of developmental brain disorders, which include structural malformations of the brain and nerves, intellectual disability, epilepsy, and some psychiatric conditions like autism and potentially schizophrenia. Ongoing gene identification reveals a great diversity of genetic causes underlying abnormal brain development, illuminating new biochemical pathways often not suspected based on genetic studies in other organisms. Our greater understanding of genetic disease also shows the complexity of allelic diversity, in which distinct mutations in a given gene can cause a wide range of distinct diseases or other phenotypes. These diverse alleles not only provide a platform for discovery of critical protein-protein interactions in a genetic fashion, but also illuminate the likely genetic architecture of as yet poorly characterized neurological disorders.
神经科学面临的最大挑战之一是阐明发育性脑疾病的结构，这些疾病包括大脑和神经的结构畸形、智力障碍、癫痫以及一些精神疾病，如自闭症和可能的精神分裂症。正在进行的基因鉴定揭示了异常大脑发育的遗传原因的多样性，阐明了新的生化途径，这些途径通常是基于其他生物体的遗传研究而没有被怀疑的。我们对遗传性疾病的认识的提高也表明了等位基因多样性的复杂性，即特定基因中的不同突变可以导致广泛的不同疾病或其他表型。这些不同的等位基因不仅为以遗传方式发现关键蛋白质-蛋白质相互作用提供了一个平台，而且阐明了目前尚未很好描述的神经紊乱的可能遗传结构。
