ID 109852
タイトルヨミ
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
タイトル別表記
Hyperparathyroidism : Jaw Tumor Syndrome
著者
吉本, 勝彦 徳島大学大学院ヘルスバイオサイエンス研究部分子薬理学分野 徳島大学 教育研究者総覧 KAKEN研究者をさがす
水澤, 典子 徳島大学大学院ヘルスバイオサイエンス研究部分子薬理学分野 徳島大学 教育研究者総覧 KAKEN研究者をさがす
岩田, 武男 徳島大学大学院ヘルスバイオサイエンス研究部分子薬理学分野 KAKEN研究者をさがす
小野, 信二 徳島大学大学院ヘルスバイオサイエンス研究部分子薬理学分野
キーワード
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
資料タイプ
学術雑誌論文
抄録
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.
掲載誌名
四国歯学会雑誌
ISSN
09146091
cat書誌ID
AN10050046
出版者
四国歯学会
27
1
開始ページ
35
終了ページ
39
並び順
35
発行日
2014-06-30
EDB ID
フルテキストファイル
言語
jpn
著者版フラグ
出版社版
部局
歯学系