オオトモ タカノブ   Takanobu Otomo
  大友 孝信
   所属   川崎医科大学  医学部 基礎医学 分子遺伝医学
   職種   教授
論文種別 総説
言語種別 英語
査読の有無 査読あり
招待の有無 招待あり
表題 Mucopolysaccharidosis-Plus Syndrome.
掲載誌名 正式名:International journal of molecular sciences
略  称:Int J Mol Sci
ISSNコード:14220067/14220067
掲載区分国外
巻・号・頁 21(2),421頁
著者・共著者 Vasilev Filipp, Sukhomyasova Aitalina, Otomo Takanobu
発行年月 2020/01
概要 Previously, we reported a novel disease of impaired glycosaminoglycans (GAGs) metabolism without deficiency of known lysosomal enzymes-mucopolysaccharidosis-plus syndrome (MPSPS). MPSPS, whose pathophysiology is not elucidated, is an autosomal recessive multisystem disorder caused by a specific mutation p.R498W in the VPS33A gene. VPS33A functions in endocytic and autophagic pathways, but p.R498W mutation did not affect both of these pathways in the patient's skin fibroblast. Nineteen patients with MPSPS have been identified: seventeen patients were found among the Yakut population (Russia) and two patients from Turkey. Clinical features of MPSPS patients are similar to conventional mucopolysaccharidoses (MPS). In addition to typical symptoms for conventional MPS, MPSPS patients developed other features such as congenital heart defects, renal and hematopoietic disorders. Diagnosis generally requires evidence of clinical picture similar to MPS and molecular genetic testing. Disease is very severe, prognosis is unfavorable and most of patients died at age of 10-20 months. Currently there is no specific therapy for this disease and clinical management is limited to supportive and symptomatic treatment.
DOI 10.3390/ijms21020421
PMID 31936524