ID 109642
Author
Iwata, Takeo Department of Medical Pharmacology, Institute of Health Biosciences, The University of Tokushima Graduate School KAKEN Search Researchers
Yamada, Shozo Department of Hypothalamic & Pituitary Surgery, Toranomon Hospital
Mizusawa, Noriko Department of Medical Pharmacology, Institute of Health Biosciences, The University of Tokushima Graduate School Tokushima University Educator and Researcher Directory KAKEN Search Researchers
Hossain, Md. Golam Department of Medical Pharmacology, Institute of Health Biosciences, The University of Tokushima Graduate School
Sano, Toshiaki Department of Human Pathology, Institute of Health Biosciences, The University of Tokushima Graduate School Tokushima University Educator and Researcher Directory KAKEN Search Researchers
Yoshimoto, Katsuhiko Department of Medical Pharmacology, Institute of Health Biosciences, The University of Tokushima Graduate School Tokushima University Educator and Researcher Directory KAKEN Search Researchers
Keywords
isolated familial somatotropinomas
GH-secreting adenomas
aryl hydrocarbon receptor-interacting protein
Content Type
Journal Article
Description
Background
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.
Results
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.
Conclusion
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.
Journal Title
Clinical Endocrinology
ISSN
03000664
NCID
AA00607669
Volume
66
Issue
4
Start Page
499
End Page
502
Sort Key
499
Published Date
2007-04
Remark
Copyright © 1999-2016 John Wiley & Sons, Inc. All Rights Reserved.
EDB ID
Published Source
Clinical Endocrinology (2007) Volume 66 Issue 4 Pages 499–502 (DOI: 10.1111/j.1365-2265.2007.02758.x)
URL ( Publisher's Version )
FullText File
language
eng
TextVersion
Author
departments
Oral Sciences
Medical Sciences