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KAKEN_23591517seika.pdf
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:Dec 11, 2014 |
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DUOX2遺伝子変異による先天性甲状腺機能低下症の有病率・臨床像・分子機序の解明
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DUOX2 イデンシ ヘンイ ニ ヨル センテンセイ コウジョウセン キノウ テイカショウ ノ ユウビョウリツ・リンショウゾウ・ブンシ キジョ ノ カイメイ
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DUOX2 idenshi heni ni yoru sentensei kojosen kino teikasho no yubyoritsu rinshozo bunshi kijo no kaimei
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Prevalence, clinical manifestation, and molecular mechanism of congenital hypothyroidism due to DUOX2 abnormality
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長谷川, 奉延
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ハセガワ, トモノブ
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Hasegawa, Tomonobu
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慶應義塾大学・医学部・教授
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Research team head
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科研費研究者番号 : 20189533
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鳴海, 覚志
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ナルミ, サトシ
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Narumi, Satoshi
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慶應義塾大学・医学部・特任助教
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Research team member
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科研費研究者番号 : 40365317
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2014
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科学研究費補助金研究成果報告書
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2013
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| Abstract |
両アリル性DUOX2変異(DUOX2異常症)による永続性先天性甲状腺機能低下症(CH)は常染色体劣性遺伝病であり、その有病率は一般人口の1/44,000、CH の8/102(7.8%)である。DUOX2異常症による永続性CHの臨床症状は新生児期に重症でその後軽症化する。DUOX2異常症は一過性CH、遅発性CHを示すこともある。片アレル性DUOX2変異保有者は多因子遺伝病として1%未満にCHを発症するにすぎない。片アレル性DUOX2変異かつ片アレル性TSHR変異の二重保因者のCH発症リスクは3.7％である。
変異DUOX2分子の発現実験系での機能解析方法を確立した。
The prevalence of congenital hypothyroidism (CH) due to biallelic DUOX2 mutations is 1/44,000 in Japan. In CH, the prevalence of biallelic DUOX2 mutations is 8/102 (7.8%). The inheritance mode of biallelic DUOX2 mutations is autosomal recessive. CH due to biallelic DUOX2 mutations has some characteristics as follows: It is permanent, transient, or late-onset. Clinical findings in neonatal period are severe, while they improve by the age of 2 years. Environmental factors such as maternal iodine exposure can affect clinical findings. Biochemical study does not always show defects of iodine organization. In contrast, monoallelic DUOX2 mutation rarely (<1%) develops CH. The inheritance mode of CH related to monoallelic DUOX2 mutation is multifactorial. 3.7 % of subjects having both monoallelic DUOX2 mutation and monoallelic TSHR mutation develop CH.
I have established in vitro assay to characterize function of wild or mutant DUOX2 molecule.
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研究種目 : 基盤研究(C)
研究期間 : 2011～2013
課題番号 : 23591517
研究分野 : 医歯薬学
科研費の分科・細目 : 内科系臨床医学・小児科学
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