Molecular analysis of congenital central hypoventilation syndrome in infant sudden death cases

关于婴儿猝死综合症，人们怀疑其未知原因不仅包括窒息等生理因素，还包括涉及呼吸和循环系统的先天性疾病。然而;遗传疾病，特别是先天性中枢性低通气综合征（CCHS, Ondine's curse），很难通过尸检和组织学的事后检查来诊断。我们对小岛屿发展中国家受害者的DNA样本进行了候选基因的分子分析。在RET原癌基因Phox2b（配对中胚层同源盒2b）、ZFHX1B（锌指同源盒1B）、CSTB（胱抑素B）、EDNRB（内皮素受体B型）基因分析中，未见明显突变，提示CCHS与SIDS关系不密切。然而，在分析过程中获得了方法上的改进，这些改进已作为研究文章发表。另一方面，在1例中检测到线粒体肌病、脑病、乳酸酸中毒和卒中样发作（MELAS）的线粒体紊乱。虽然MELAS作为一种慢性疾病进展缓慢，但它可能涉及一些小岛屿发展中国家的病例。

Concerning sudden infant death syndrome, the unknown causes have been suspected to be not only physical factors such as asphyxia, but also congenital disorders involving the respiratory and circulation systems. However ; it is difficult for the inherited diseases, in particular congenital central hypoventilation syndrome (CCHS, Ondine's curse), to be diagnosed by post-mortem examinations of autopsy and histology. We performed molecular analysis of the candidate genes to DNA specimens from SIDS victims. In the analysis of RET proto-oncogene, Phox2b (paired mesoderm homeobox 2b), ZFHX1B (zinc finger homeobox 1B), CSTB (cystatin B), EDNRB (endothelin receptor type B) genes, no remarkable mutations were evident, indicating that CCHS is not closely related to SIDS. However, methodological improvements were obtained during the analysis, which has been published as research articles. In another aspect, mitochondrial disorder of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) was detected in a case. Although progressing slowly as a chronic disorder, MELAS is potentially involved in some of SIDS cases.