ID 109852
Title Transcription
フクコウジョウセン キノウ コウシンショウ : ガク シュヨウ ショウコウグン
Title Alternative
Hyperparathyroidism : Jaw Tumor Syndrome
Author
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
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
Iwata, Takeo Department of Medical Pharmacology, Institute of Health Biosciences, The University of Tokushima Graduate School KAKEN Search Researchers
Ono, Shinji Department of Medical Pharmacology, Institute of Health Biosciences, The University of Tokushima Graduate School
Keywords
HPT-JT
原発性副甲状腺機能亢進症
骨形成性線維腫
CDC73
パラフィブロミン
Content Type
Journal Article
Description
The hyperparathyroidism-jaw tumor (HPT-JT) syndrome is an autosomal dominant disorder characterized by the occurrence of parathyroid tumors in association with ossifying fibromas of the maxilla and/or mandible. HPT-JT-associated primary hyperparathyroidism is usually caused by a single parathyroid adenoma. Ossifying fibroma occurs in about 30% of individuals with HPT-JT syndrome. Many patients with HPT-JT syndrome present with a single benign parathyroid tumor; however, the optimal surgical approach to primary hyperparathyroidism has not yet been established. The gene responsible for HPT-JT syndrome on 1q31.2, known as CDC73 (formerly known as HRPT2), was identified and encodes a 531-amino acid protein known as parafibromin. Germline CDC73 mutations are detected in patients with HPT-JT syndrome, and majority (>75%) of mutations predict premature truncation of the parafibromin, and the demonstration of loss of heterozygosity at the CDC73 locus in tumors is consistent with a tumor suppressor role. Approximately 20% of patients with apparently sporadic parathyroid cancer are found to have germline CDC73 mutations, suggesting that such cases may, in fact, represent undiagnosed HPT-JT syndrome. Parafibromin is known to act as a tumor suppressor that inhibits expression of cyclin D1 and c-myc by recruiting histone methyltransferase. On the other hand, parafibromin can act in the opposing direction by binding β-catenin, thereby activating oncogenic Wnt signaling. Furthermore, parafibromin acts as a positive regulator of cell growth similar to an oncoprotein in the presence of SV40 large T antigen. These results suggest the context-dependent oncogenic or tumor- suppressor functions of parafibromin.
Journal Title
四国歯学会雑誌
ISSN
09146091
NCID
AN10050046
Publisher
四国歯学会
Volume
27
Issue
1
Start Page
35
End Page
39
Sort Key
35
Published Date
2014-06-30
EDB ID
FullText File
language
jpn
TextVersion
Publisher
departments
Oral Sciences