Systemic accumulation of undigested lysosomal metabolites in an autopsy case of mucolipidosis type II; autophagic dysfunction in cardiomyocyte
详细信息 查看全文
- 作者：Yohei Satoa ; b ; yoheisato@jikei.ac.jp" class="auth_mail ; Hiroshi Kobayashia ; b ; Shun Satoc ; Yohta Shimadab ; Takahiro Fukudad ; Yoshikatsu Etoa ; e ; Toya Ohashia ; b ; Hiroyuki Idaa ; b
- 关键词：Mucolipidosis type II ; I-cell disease ; Autopsy ; Hypertrophic cardiomyopathy ; Autophagic dysfunction
- 刊名：Molecular Genetics and Metabolism
- 出版年：July 2014
- 年：2014
- 卷：112
- 期：3
- 页码：224-228
- 全文大小：1754 K
文摘
- •
We analyzed autopsy case of mucolipidosis type II by general and immunohistochemical pathology.
- •
Systemic pathological change caused by lysosomal accumulation of undigested material is prominent.
- •
Cardiomyocyte is severely affected and hypertrophic cardiomyopathy due to the lysosomal accumulation is observed.
- •
Autophagy dysfunction is suspected particularly in the cardiomyocyte and dorsal root ganglions.