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

先天性中枢性低通气综合征婴儿猝死病例的分子分析

• 批准号: 14570379
• 负责人: OSAWA Motoki
• 金额: $ 2.3万
• 依托单位: Yamagata University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 2002
• 资助国家: 日本
• 起止时间: 2002 至 2003
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-14570379/
• 关键词: SIDS; Molecular analysis; RET proto-oncogene; Phox2b; MELAS; 突然死; 低換気; 遺伝子異常; ミトコンドリアゲノム; ハプロタイプ解析; 連鎖不均衡値

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.

关于婴儿猝死综合症，不明原因被怀疑不仅是窒息等身体因素，而且还有涉及呼吸和循环系统的先天性疾病。然;遗传性疾病，特别是先天性中枢性低通气综合征（Congenital Central Hyperventilation Syndrome，CCHS，Ondine's curse），很难通过尸检和组织学检查来诊断。我们对来自SIDS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、Phox 2 B（成对中胚层同源框2 B）、ZFHX 1 B（锌指同源框1 B）、CSTB（胱抑素B）、EDNRB（内皮素受体B型）基因的分析中，没有明显的突变，表明CCHS与SIDS没有密切关系。然而，在分析过程中取得了方法上的改进，这些改进已作为研究文章发表。在另一方面，在一个病例中检测到线粒体肌病、脑病、乳酸性酸中毒和中风样发作（MELAS）的线粒体病症。虽然作为一种慢性疾病进展缓慢，但MELAS可能参与一些SIDS病例。

项目成果

Osawa M, Horiuchi H, Tian W, Kaneko M: "Divergent evolution of the prolactin-inducible protein gene and related genes in the mouse genome"Gene. 325. 179-186 (2004)

Osawa M、Horiuchi H、Tian W、Kaneko M：“小鼠基因组中催乳素诱导蛋白基因及相关基因的趋异进化”基因。

Divergent evolution of the prolactin-inducible protein gene and rel ated genes in the mouse genome

小鼠基因组中催乳素诱导蛋白基因及相关基因的趋异进化

• 发表时间: 2004
• 期刊: Gene 325
• 作者: Osawa M;Horiuchi H et al.
• 通讯作者: Horiuchi H et al.

Haplotype analysis of the RET proto-oncogene.

RET 原癌基因的单倍型分析。

• 发表时间: 2004
• 期刊: DNA Polymorphism 12
• 作者: Osawa M;Horiuchi H;Kaneko M;Umetsu K;Ino Y;Matoba R
• 通讯作者: Matoba R

Osawa M., Kaneko M., et al.: "Evolution of the cystain B gene : implications for the origin of its variable dodecamer tandem repeat in humans"Genomics. 81・1. 78-84 (2003)

Osawa M.、Kaneko M.等人：“半胱氨酸B基因的进化：对其可变十二聚体串联重复的起源的影响”Genomics 81・1（2003）。

Osawa M, Kaneko M, Horiuchi H, Kitano T, Saitou N, Umetsu K: "Evolution of the cystatin B gene : implications for the origin of its variable dodecamer tandem repeat in humans"Genomics. 81. 78-84 (2003)

Osawa M、Kaneko M、Horiuchi H、Kitano T、Saitou N、Umetsu K：“半胱氨酸蛋白酶抑制剂 B 基因的进化：对其可变十二聚体串联重复在人类中的起源的影响”基因组学。