Genetic Disease Program, Sanford-Burnham Medical Research Institute, La Jolla, California 92037, USA.
J Biol Chem. 2013 Mar 8;288(10):6936-45. doi: 10.1074/jbc.R112.429274. Epub 2013 Jan 17.
Nearly 70 inherited human glycosylation disorders span a breathtaking clinical spectrum, impacting nearly every organ system and launching a family-driven diagnostic odyssey. Advances in genetics, especially next generation sequencing, propelled discovery of many glycosylation disorders in single and multiple pathways. Interpretation of whole exome sequencing results, insights into pathological mechanisms, and possible therapies will hinge on biochemical analysis of patient-derived materials and animal models. Biochemical diagnostic markers and readouts offer a physiological context to confirm candidate genes. Recent discoveries suggest novel perspectives for textbook biochemistry and novel research opportunities. Basic science and patients are the immediate beneficiaries of this bidirectional collaboration.
近 70 种遗传性人类糖基化疾病涵盖了令人惊叹的临床谱，影响几乎每一个器官系统，并引发了以家庭为导向的诊断探索。遗传学的进步，特别是下一代测序技术，推动了单一和多种途径的许多糖基化疾病的发现。全外显子组测序结果的解释、对病理机制的深入了解以及可能的治疗方法都将取决于对患者来源材料和动物模型的生化分析。生化诊断标志物和检测结果为确认候选基因提供了生理背景。最近的发现为教科书生物化学和新的研究机会提供了新的视角。基础科学和患者是这种双向合作的直接受益者。
