Therapy of glycogenosis type II by myoblast transfer

通过成肌细胞移植治疗 II 型糖原增多症

• 批准号: 05670575
• 负责人: USUKI Fusako
• 金额: $ 1.34万
• 依托单位: Teikyo University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for General Scientific Research (C)
• 财政年份: 1993
• 资助国家: 日本
• 起止时间: 1993 至 1994
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-05670575/
• 关键词: Glycogenosis type II; Acid alpha-glucosidase (GAA); Myoblast; Transfer; Therapy; acidalpha-glucosidase(GAA); GAA前駆体

Acid alpha-glucosidase (GAA) of quails is a 105kD protein and is defective in Japanese quails with glycogenosis type II.GAA is synthesized from a high molecular 130kD precursor protein. GAA precursor is once secreted outside the cell, recaptured by the cell and processed to mature type inside the cell.We focused on this specific GAA synthesis pathway in order to investigate the possibility of the therapy of glycogenosis type II.In this study we examined whether co-culture of disseased cells with normal myoblasts increased GAA activity in the diseased cells. The formation of hybrid myotubes (90% diseased cells + 10% normal cells) increased GAA activity from 27% of the normal level to 54%. GAA precursor from normal cells seems to be processed in the diseased cells. The reduction of the volume of normal cells remains tobe determined.We found that GAA activity can be found in the serum in various species. These results suggest that glycogenosis type II in Japanese quails can be easily diagnosed by the direct measurement of the serum GAA activity. The plasmapheresis may be useful for the therapy of glycogenosis type II.

鹌鹑的酸α-葡萄糖苷酶（GAA）是一种105KD蛋白，在糖原病含量II型的日本鹌鹑中有缺陷。GAA是由高分子130kD前体蛋白合成的。 GAA前体曾经被分泌在细胞外，被细胞重新捕获并在细胞内部处理成成熟的类型。我们专注于这一特定的GAA合成途径，以研究II型糖原病治疗的可能性。在这项研究中，我们是否检查了该研究是否检查与正常成肌细胞的解剖细胞共培养增加了患病细胞中的GAA活性。杂化肌管的形成（90％患病细胞 + 10％正常细胞）将GAA活性从正常水平的27％增加到54％。正常细胞的GAA前体似乎在患病的细胞中处理。正常细胞体积的减少依赖于确定。我们发现在各种物种的血清中可以找到GAA活性。这些结果表明，通过直接测量血清GAA活性，可以轻松诊断出日本鹌鹑中II型糖原病。血浆置换可能可用于治疗II型糖原。

项目成果

Fusako Usuki, Satoshi Takenaga, Itsuro Higuchi, Nobuyuki Kashio, Masanori Nakagawa, Mitsuhiro Osame: "Morphologic findings in biopsied skeletal muscle and cultured fibroblasts from a female patient with Danon's disease (lysosomalglycogen storage disease w

Fusako Usuki、Satoshi Takenaga、Itsuro Higuchi、Nobuyuki Kashio、Masanori Nakakawa、Mitsuhiro Osame：“来自一位患有 Danon 病（溶酶体糖原贮积病）的女性患者的活检骨骼肌和培养成纤维细胞的形态学发现

Fusako Usuki: "Acid maltase deficiency" Annual Review Neurology 1993. 245-252 (1993)

Fusako Usuki：“酸性麦芽糖酶缺乏症”神经病学年度评论 1993. 245-252 (1993)

Usuki F,Satoshi T et al.: "Morphologic findings in biopsied skeletal muscle and cultured fibroblasts from a female patient with Danon's disease(lysosomal glycogen storage disease without acid maltase deficiency)" J Neurol Sci. 127. 54-60 (1994)

Usuki F、Satoshi T 等人：“达农氏病（不伴有酸性麦芽糖酶缺乏症的溶酶体糖原贮积病）女性患者的骨骼肌活检和培养成纤维细胞的形态学发现”J Neurol Sci。

臼杵扶佐子: "Acid maltase 欠損症" Annual Review 神経 1993. 245-252 (1993)

Fusako Usuki：“酸性麦芽糖酶缺乏症”神经病学年度评论 1993. 245-252 (1993)