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

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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.