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タイトル :Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis
著者 :Indo, Yasuhiro
Tsuruta, Motoko
Hayashida, Yumi
Karim, Mohammad Azharul
Ohta, Kohji
Kawano, Tomoyasu
Mitsubuchi, Hiroshi
Tonoki, Hidefumi
Awaya, Yutaka
Matsuda, Ichiro
刊行年月日 :1996-8
収録雑誌名 :Nature Genetics
巻 :13
号 :4
開始ページ :485
終了ページ :488
要約(Abstract) :Congenital insensitivity to pain with anhidrosis (CIPA; MIM 256800) is an autosomal-recessive disorder characterized by recurrent episodes of unexplained fever, anhidrosis (absence of sweating) and absence of reaction to noxious stimuli, self-mutilating behaviour and mental retardation1−3. The genetic basis for CIPA is unknown. Nerve growth factor (NGF) induces neurite outgrowth and promotes survival of embryonic sensory and sympathetic neurons4. Mice lacking the gene for TrkA, a receptor tyrosine kinase for NGF5,6, share dramatic phenotypic features of CIPA, including loss of responses to painful stimuli, although anhidrosis is not apparent in these animals7. We therefore considered the human TRKA homologue as a candidate for the CIPA gene. The mRNA and genomic DNA encoding TRKA were analysed in three unrelated CIPA patients who had consanguineous parents. We detected a deletion-, splice- and missense-muta-tion in the tyrosine kinase domain in these three patients. Our findings strongly suggest that defects in TRKA cause CIPA and that the NGF−TRKA system has a crucial role in the development and function of the nociceptive reception as well as establishment of thermoregulation via sweating in humans. These results also implicate genes encoding other TRK and neurotrophin family members as candidates for developmental defect(s) of the nervous system.
収録種別 :雑誌掲載論文
出版社(者) :Nature Publishing Group
権利(Rights) :c1996 Nature Publishing Group
備考 :"Nature Genetics, August 1996, Volume 13 No 4, Letters"
URI :http://hdl.handle.net/2298/9067
関連 :http://www.nature.com/ng/index.html
このアイテムの引用には次の識別子を使用してください: http://hdl.handle.net/2298/9067