2011 Fiscal Year Final Research Report
Role of IGF-1system in growth-functional analysis of Acid Labile Subunit(ALS) and IGF1R
| Project/Area Number |
22790982
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Single-year Grants |
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| Research Field |
Pediatrics
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| Research Institution | Tottori University |
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Principal Investigator |
KAWASHIMA Yuki 鳥取大学, 医学部附属病院, 助教 (20403412)
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| Project Period (FY) |
2010 – 2011
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| Keywords | 小児内分泌学 |
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| Research Abstract |
We analysed the nucleotide sequences of the IGF1R gene of patient with idiopathic short stature, or SGA short stature, and that of ALS gene of short stature patient with low serum IGF1 level. Although we were not able to identify the mutation of ALS gene on those patients, we identified heterozygous mutation(p. Q1220X) of the IGF-1R gene in SGA short stature with high serum IGF-1 levels and poor response to GH treatment. This mutation site in tyrosine kinase domain results in the absence of carboxyl terminal fragment of IGF-1R after the mutation site(p. Q1220X). Since this lacked carboxyl fragment contains the important site for cell proliferation, we concluded this mutation resulted in IGF-1R dysfunction and short stature.
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