岩田, 武男 Department of Medical Pharmacology, Institute of Health Biosciences, The University of Tokushima Graduate School KAKEN研究者をさがす
ヤマダ, ショウゾウ Department of Hypothalamic & Pituitary Surgery, Toranomon Hospital
水澤, 典子 Department of Medical Pharmacology, Institute of Health Biosciences, The University of Tokushima Graduate School 徳島大学 教育研究者総覧 KAKEN研究者をさがす
Hossain, Md. Golam Department of Medical Pharmacology, Institute of Health Biosciences, The University of Tokushima Graduate School
佐野, 壽昭 Department of Human Pathology, Institute of Health Biosciences, The University of Tokushima Graduate School 徳島大学 教育研究者総覧 KAKEN研究者をさがす
isolated familial somatotropinomas
aryl hydrocarbon receptor-interacting protein
Recently, germ-line mutations of aryl hydrocarbon receptor-interacting protein (AIP) gene located on 11q13 were identified in patients with pituitary adenoma predisposition.
Aim/ Patients and Methods
We investigated the involvement of the AIP gene in one family with isolated familial somatotropinomas (IFS). To investigate the role of AIP in sporadic GH-secreting adenomas, we first analyzed somatic mutations in 40 tumours. Second, DNA from corresponding leukocytes was analyzed in tumours showing genetic changes of the AIP gene.
Germ-line mutation of AIP was found in an IFS family. Biallelic inactivation of AIP by a combination of germ-line mutation and loss of heterozygosity was confirmed in two pituitary adenomas. Mutation analysis of the AIP gene in the 40 sporadic GH-secreting adenomas showed no mutations except for a missense mutation, suggesting that germ-line mutations in patients diagnosed with sporadic acromegaly or gigantism were rare. In a patient with gigantism, a missense mutation of V49M was identified at the germ-line level.
Based on these results, we conclude that the loss of function of AIP contributes to IFS, but not for most Japanese sporadic GH-secreting adenomas.
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Clinical Endocrinology (2007) Volume 66 Issue 4 Pages 499–502 (DOI: 10.1111/j.1365-2265.2007.02758.x)
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