Insulin resistance by unprocessed insulin proreceptors point mutation at the cleavage site

Masashi Kobayashi*, Toshiyasu Sasaoka, Yasumitsu Takata, Osamu Ishibashi, Masaaki Sugibayashi, Yukio Shigeta, Akitaka Hisatomi, Etsuo Nakamura, Mikio Tamaki, Hiroshi Teraoka

*この論文の責任著者

研究成果: ジャーナルへの寄稿学術論文査読

49 被引用数 (Scopus)

抄録

Failure to cleave the interconnecting site between α- and β-subunit produced insulin proreceptors in the plasma membranes which had markedly low affinity to insulin, leading to extreme insulin resistance in a patient. We performed cDNA sequence analysis of the cleavage site of the insulin proreceptor from the patient. Polymerase chain reaction was used to obtain large amount of cDNA coding for the region including the interconnecting site. A thermostable DNA polymerase, Taq polymerase, successfully produced enough amount of cDNA of the region to be sequenced. The results showed AGG (Arg) to AGT (Ser) point mutation, resulting in the change of interconnecting sequence of the two subunits from -Arg-Lys-Arg-Arg- to -Arg-Lys-Arg-Ser-. These results suggest that the tertial structure change of the cleavage site leads to production of unprocessed insulin proreceptors.

本文言語英語
ページ(範囲)657-663
ページ数7
ジャーナルBiochemical and Biophysical Research Communications
153
2
DOI
出版ステータス出版済み - 1988/06/16

ASJC Scopus 主題領域

  • 生物理学
  • 生化学
  • 分子生物学
  • 細胞生物学

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