title: Systemic accumulation of undigested lysosomal metabolites in an autopsy case of mucolipidosis type II; autophagic dysfunction in cardiomyocyte.
abstract: Mucolipidosis type II is an autosomal recessive lysosomal storage disease caused by N-acetylglucosamine-1-phosphotransferese deficiency. We report here pathological findings of an autopsy case of mucolipidosis type II. The patient was an 8-year-old boy with mucolipidosis type II and was complicated with hypertrophic cardiomyopathy. He suddenly developed progressive respiratory failure and finally died. At autopsy, systemic accumulation of undigested lysosomal metabolites was prominent, particularly in the heart, lungs, and dorsal root ganglion. In cardiomyocyte, LC3, an autophagy marker, was positive in the cytoplasm. Ubiquitin, p62, K48 polyubiquitin, and K63 polyubiquitin were also positive in the cytoplasm. Our findings suggest that autophagic dysfunction might be associated with the cardiomyopahty of mucolipidosis type II.
authors.affiliation: Department of Pediatrics, The Jikei University School of Medicine, Japan; Department of Gene Therapy, Institute of DNA Medicine, Research Center for Medical Sciences, The Jikei University School of Medicine, Japan. Electronic address: yoheisato@jikei.ac.jp.
authors.forename: Yohei
authors.initials: Y
authors.lastname: Sato
authors.affiliation: Department of Pediatrics, The Jikei University School of Medicine, Japan; Department of Gene Therapy, Institute of DNA Medicine, Research Center for Medical Sciences, The Jikei University School of Medicine, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Kobayashi
authors.affiliation: Division of Pathology, The Jikei University School of Medicine, Japan.
authors.forename: Shun
authors.initials: S
authors.lastname: Sato
authors.affiliation: Department of Gene Therapy, Institute of DNA Medicine, Research Center for Medical Sciences, The Jikei University School of Medicine, Japan.
authors.forename: Yohta
authors.initials: Y
authors.lastname: Shimada
authors.affiliation: Division of Neuropathology, Department of Pathology, The Jikei University School of Medicine, Japan.
authors.forename: Takahiro
authors.initials: T
authors.lastname: Fukuda
authors.affiliation: Department of Pediatrics, The Jikei University School of Medicine, Japan; Advanced Clinical Research Center, Institute of Neurological Diseases, Japan.
authors.forename: Yoshikatsu
authors.initials: Y
authors.lastname: Eto
authors.affiliation: Department of Pediatrics, The Jikei University School of Medicine, Japan; Department of Gene Therapy, Institute of DNA Medicine, Research Center for Medical Sciences, The Jikei University School of Medicine, Japan.
authors.forename: Toya
authors.initials: T
authors.lastname: Ohashi
authors.affiliation: Department of Pediatrics, The Jikei University School of Medicine, Japan; Department of Gene Therapy, Institute of DNA Medicine, Research Center for Medical Sciences, The Jikei University School of Medicine, Japan.
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Ida
mesh_terms: D001343:Autophagy; D001344:Autopsy; D002675:Child, Preschool; D005727:Ganglia, Spinal / Q000378:metabolism / Q000473:pathology / Q000648:ultrastructure; D006801:Humans; D007223:Infant; D008168:Lung / Q000378:metabolism / Q000473:pathology / Q000648:ultrastructure; D008247:Lysosomes / Q000378:metabolism*; D008297:Male; D009081:Mucolipidoses / Q000175:diagnosis / Q000378:metabolism* / Q000473:pathology*; D032383:Myocytes, Cardiac / Q000378:metabolism* / Q000473:pathology* / Q000648:ultrastructure
keywords: Autophagic dysfunction; Autopsy; Hypertrophic cardiomyopathy; I-cell disease; Mucolipidosis type II