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分子内分泌研究部

研究部紹介

胎児期から生殖年齢期までの内分泌疾患、成長障害、生殖機能障害および先天奇形症候群を主な対象として、ゲノム・エピゲノム解析と臨床的解析を行っています。これにより、疾患発症機序の解明、臨床像や予後の解明、迅速かつ正確な診断法の確立、新しい治療法の開発を目指しています。

研究対象疾患

分子内分泌研究部では、研究の一環として性分化疾患、成長障害、性成熟疾患、カルシウム異常症などの遺伝子診断を行っています。研究の詳細や検体受け入れの可否については、主治医から下記メールアドレスに問い合わせ下さい。

研究部問い合わせ窓口

問い合わせ先のメールアドレスの画像

最近のトピックス

分子内分泌研究部では、積極的に学術誌や学術集会で研究成果を発表しています。また情報発信にも精力的に取り組んでいます。

研究内容

  1. 単一遺伝子疾患研究

    臨床検体の網羅的変異解析を通じて、成育疾患の疾患成立機序の解明、疾患重症度決定因子の同定、新たな診断法と治療法の開発を目指しています。

  2. インプリンティング疾患研究

    インプリンティング疾患の病態の解明と発症機序の解明、診療ガイドラインの策定を行っています。また、生殖補助医療におけるインプリンティング異常発症リスクの評価を行っています。

  3. 多因子疾患研究

    小児期発症1型糖尿病、多嚢胞性卵巣症候を含むさまざまな成育疾患の発症に関与する環境因子と感受性多型の同定を行っています。

  4. 染色体・ゲノム異常症研究

    減数分裂時の染色体分配異常や体細胞性染色体喪失などによる染色体異数性、また組み換え異常やDNA複製エラーによるゲノム構造変化などに関する研究を進めています。

  5. 医療・社会への貢献

    遺伝子診断技術の提供、日本人患者データベース作成、治療指針の作成などを通じて、社会に貢献しています。

  6. 人材育成

    全国から大学院生や若手研究者を受け入れ、将来の成育疾患研究を担う人材を育成しています。

スタッフ

部長

深見 真紀（部長）

室長

鏡 雅代（室長）

特任研究員

福井 由宇子

上級研究員

服部 淳
中尾 佳奈子

研究補助員

秋山 真由子
影山 郁子
鈴木 江莉奈
宮迫 さおり

リサーチアソシエイト、大学院生、他


業績（2022年）

英文論文

  1. Matsubara K, Hattori T, Narumi S. Achievement of developmental milestones recorded in real time: A mobile app-based study. J Pediatr. 2022; 245: 201-207
  2. Fukami M, Shindo J, Ogata T, Kageyama I, Kamimaki T. SHOX far-downstream deletion in a patient with non-syndromic short stature. Am J Med Genet. 2022; 188(7): 2173-2177
  3. Fujisawa Y, Ono H, Konno A, Yao I, Itoh H, Baba T, Morohashi K, Katoh-Fukui Y, Miyado M, Fukami M, Ogata T. Intrauterine hyponutrition reduces fetal testosterone production and postnatal sperm count in the mouse. J Endocr Soc. 2022; 6(4): bvac022
  4. Aoto S, Hangai M, Ueno-Yokohata H, Ueda A, Igarashi M, Ito Y, Tsukamoto M, Jinno T, Sakamoto M, Okazaki Y, Hasegawa F, Ogata-Kawata H, Namura S, Kojima K, Kikuya M, Matsubara K, Taniguchi K, Okamura K. Collection of 2429 constrained headshots of 277 volunteers for deep learning. Sci Rep. 2022; 12(1): 3730
  5. Eggermann T, Yapici E, Bliek J, Pereda A, Begemann M, Russo S, Tannorella P, Calzari L, de Nanclares GP, Lombardi P, Temple IK, Mackay D, Riccio A, Kagami M, Ogata T, Lapunzina P, Monk D, Maher ER, Tümer Z. Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences. Clin Epigenetics. 2022; 14(1): 41
  6. Campbell D, Reyes M, Kaygusuz SB, Abali S, Guran T, Bereket A, Kagami M, Turan S, Jüppner H. A novel deletion involving the first GNAS exon encoding Gsα causes PHP1A without methylation changes at exon A/B. Bone. 2022; 157: 116344
  7. Sato B, Kanai S, Sakaguchi D, Yajima K, Matsumoto Y, Morohoshi K, Kagaya S, Izumo N, Ichinose M, Kang W, Miyado M, Miyado K, Kawano N. Suppressive role of lactoferrin in overweight-related female fertility problems. Nutrients. 2022; 14(5): 938
  8. Fuke T, Nakamura A, Inoue T, Kawashima S, Hara-Isono K, Matsubara K, Sano S, Yamazawa K, Fukami M, Ogata T, Kagami M. Frequency and clinical characteristics of distinct etiologies in patients with Silver-Russell syndrome diagnosed based on the Netchine-Harbison clinical scoring system. J Hum Genet. 2022; 67(10): 607-611
  9. Narusawa H, Sasaki S, Hara-Isono K, Matsubara K, Fukami M, Nagasaki K, Kagami M. A boy with overgrowth caused by multi-locus imprinting disturbance including hypomethylation of MEST:alt-TSS-DMR. Eur J Med Genet. 2022; 65(6): 104502
  10. Tamaoka S, Fukuda A, Katoh-Fukui Y, Hattori A, Uchida H, Shimizu S, Yanagi Y, Kanaan SB, Sakamoto S, Kasahara M, Yoshioka T, Fukami M. Quantification of maternal microchimeric cells in the liver of children with biliary atresia. J Pediatr Gastroenterol Nutr. 2022; 74(4): e83-e86
  11. Tanase-Nakao K, Muroya K, Adachi M, Abe K, Hasegawa T, Narumi S. A patient with congenital hypothyroidism due to a PAX8 frameshift variant accompanying a urogenital malformation. Clin Pediatr Endocrinol. 2022; 31(4): 250-255
  12. Narumi S, Opitz R, Nagasaki K, Muroya K, Asakura Y, Adachi M, Abe K, Sugisawa C, Kühnen P, Ishii T, Nöthen MM, Krude H, Hasegawa T. GWAS of thyroid dysgenesis identifies a risk locus at 2q33.3 linked to regulation of Wnt signaling. Hum Mol Genet. 2022; 31(23): 3967-3974
  13. Sato T, Ishii T, Fukami M, Ogata T, Hasegawa T. The first adult case of cytochrome P450 oxidoreductase deficiency with sufficient semen volume and sperm concentration. Congenit Anom (Kyoto). 2022; 62(3): 136-137
  14. Okamoto M, Hamada J, Ochi F, Fukami M, Eguchi M. Short stature in a child with a novel Aggrecan gene variant: A case report. Pediatr Int. 2022; 64(1): e15116
  15. Kyodo R, Takeuchi I, Narumi S, Shimizu H, Hata K, Yoshioka T, Tanase-Nakao K, Shimizu T, Arai K. Novel biallelic mutations in the DUOX2 gene underlying very early-onset inflammatory bowel disease: A case report. Clin Immunol. 2022; 238: 109015
  16. Kawasaki Y, Sato T, Nakano S, Usui T, Narumi S, Ishii T, Hasegawa T. High-dose fludrocortisone therapy was transiently required in a female neonate with 21-hydroxylase deficiency. Clin Pediatr Endocrinol. 2022; 31(2): 93-97
  17. Kang W, Ishida E, Amita M, Tatsumi K, Yonezawa H, Yohtsu M, Katano D, Onozawa K, Kaneko E, Iwasaki W, Naito N, Yamada M, Kawano N, Miyado M, Sato B, Saito H, Saito T, Miyado K. Trehalose suppresses lysosomal anomalies in supporting cells of oocytes and maintains female fertility. Nutrients. 2022; 14(10): 2156
  18. Kang W, Katano D, Kawano N, Miyado M, Miyado K. Extra-mitochondrial citrate synthase controls cAMP-dependent pathway during sperm acrosome reaction in mice. MicroPubl Biol. 2022; 10.17912
  19. Ikegawa K, Hachiya R, Akiba K, Hasegawa Y. Oral disintegrating desmopressin tablet is effective for partial congenital nephrogenic diabetes insipidus with AVPR2 mutation: A case report. Clin Pediatr Endocrinol. 2022; 31(2): 87-92
  20. Hara-Isono K, Nakamura A, Fuke T, Inoue T, Kawashima S, Matsubara K, Sano S, Yamazawa K, Fukami M, Ogata T, Kagami M. Pathogenic copy number and sequence variants in children born SGA with short stature without imprinting disorders. J Clin Endocrinol Metab. 2022; 107(8): e3121-e3133
  21. Kawashima S, Yuno A, Sano S, Nakamura A, Ishiwata K, Kawasaki T, Hosomichi K, Nakabayashi K, Akustu H, Saitsu H, Fukami M, Usui T, Ogata T, Kagami M. Familial pseudohypoparathyroidism type 1B caused by an SVA retrotransposon insertion on the GNAS locus. J Bone Miner Res. 2022; 37(10): 1850-1859
  22. Hara-Isono K, Yamazawa K, Tanaka S, Nishi E, Fukami M, Kagami M. CDKN1C hyperexpression in two patients with severe growth failure and microdeletions affecting the paternally inherited KCNQ1OT1:TSS-DMR. J Med Genet. 2022; 59(12): 1241-1246
  23. Hattori A, Okuyama T, So T, Kosuga M, Ichimoto K, Murayama K, Kagami M, Fukami M, Fukuhara Y. Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome. Hum Genome Var. 2022; 9(1): 32
  24. Masunaga Y, Ohkubo Y, Nishimura G, Ueno T, Fujisawa Y, Fukami M, Saitsu H, Ogata T. ACAN biallelic variants in a girl with severe idiopathic short stature. J Hum Genet. 2022; 67(8): 481-486
  25. Naiki Y, Miyado M, Shindo M, Horikawa R, Hasegawa Y, Katsumata N, Takada S, Akutsu H, Onodera M, Fukami M. Adeno-associated virus-mediated gene therapy for patients' fibroblasts,induced pluripotent stem cells and a mouse model of congenital adrenal hyperplasia. Hum Gene Ther. 2022; 33(15-16): 801-809
  26. Shindo M, Miyado K, Kang W, Fukami M, Miyado M. Efficient superovulation and egg collection from mice. Bio Protoc. 2022; 12(11): e4439
  27. Higashiyama H, Ohsone Y, Takatani R, Futatani T, Kosaki R, Kagami M. Two infants with mild, atypical clinical features of Kagami-Ogata syndrome caused by epimutation. Eur J Med Genet. 2022; 65(10): 104580
  28. Sugisawa C, Taniyama M, Sato T, Takahashi Y, Hasegawa T, Narumi S. Biallelic PROKR2 variants and congenital hypogonadotropic hypogonadism: a case report and a literature review. Endocr J. 2022; 69(7): 831-838
  29. Nakagawa R, Takasawa K, Gau M, Tsuji-Hosokawa A, Kawaji H, Murakawa Y, Takada S, Mikami M, Narumi S, Fukami M, Sreenivasan R, Maruyama T, Tucker E, Zhao L, Bowles J, Sinclair A, Koopman P, Hayashizaki Y, Morio T, Kashimada K. Two ovarian candidate enhancers, identified by time series enhancer RNA analyses, harbor rare genetic variations identified in ovarian insufficiency. Hum Mol Genet. 2022; 31(13): 2223-2235
  30. Kuriki A, Hosoya S, Ozawa K, Wada S, Kosugi Y, Wada YS, Sekizawa A, Miyazaki O, Kagami M, Sago H. Quantitative assessment of coat-hanger ribs detected on three-dimensional ultrasound for prenatal diagnosis of Kagami-Ogata syndrome. J Obstet Gynaecol Res. 2022; 48(12): 3314-3318
  31. Fujii S, Mochizuki K, Usui H, Kitagawa N, Umemoto S, Tanaka M, Tanaka Y, Otani M, Nozawa K, Kurosawa K, Kagami M, Shinkai M. Infantile hepatic hemangioma and hepatic mesenchymal hamartoma in an infant associated with placental mesenchymal dysplasia: a case report. Surg Case Rep. 2022; 8(1): 161
  32. Miyagi T, Yamazaki R, Ueda K, Narumi S, Hayamizu Y, Uji-I H, Kuroda M, Kanekura K. The patterning and proportion of charged residues in the arginine-rich mixed-charge domain determine the membrane-less organelle targeted by the protein. Int J Mol Sci. 2022; 23(14): 7658
  33. Narita K, Muramatsu H, Narumi S, Nakamura Y, Okuno Y, Suzuki K, Hamada M, Yamaguchi N, Suzuki A, Nishio Y, Shiraki A, Yamamori A, Tsumura Y, Sawamura F, Kawaguchi M, Wakamatsu M, Kataoka S, Kato K, Asada H, Kubota T, Muramatsu Y, Kidokoro H, Natsume J, Mizuno S, Nakata T, Inagaki H, Ishihara N, Yonekawa T, Okumura A, Ogi T, Kojima S, Kaname T, Hasegawa T, Saitoh S, Takahashi Y. Whole-exome analysis of 177 pediatric patients with undiagnosed diseases. Sci Rep. 2022; 12(1): 14589
  34. Ota T, Katsumata N, Naiki Y, Horikawa R. Novel non-stop variant of the NR0B1 gene in two siblings with adrenal hypoplasia congenital. J Pediatr Endocrinol Metab. 2022; 35(9): 1189-1193
  35. Masunaga Y, Nishimura G, Takahashi K, Hishiyama T, Imamura M, Kashimada K, Kadoya M, Wada Y, Okamoto N, Oba D, Ohashi H, Ikeno M, Sakamoto Y, Fukami M, Saitsu H, Ogata T. Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG). Sci Rep. 2022; 12(1): 17079
  36. Akiba K, Hasegawa Y, Katoh-Fukui Y, Terao M, Takada S, Hasegawa T, Fukami M, Narumi S. POU1F1/Pou1f1 c.143-83A>G variant disrupts the branch site in pre-mRNA and leads dwarfism. Endocrinology. 2022 in press
  37. Ariyasu D, Nagamatsu F, Aso K, Akiba K, Hasegawa Y. Longitudinal clinical course in patients with 5α-reductase type 2 deficiency treated with testosterone and dihydrotestosterone during infancy and puberty. Endocr J. 2022 in press
  38. Negishi Y, Kurosawa K, Takano K, Matsubara K, Nishiyama T, Saitoh S. A nationwide survey of Schaaf-Yang syndrome in Japan. J Hum Genet. 2022; 67(12): 735-738
  39. Urakawa T, Ozawa J, Tanaka M, Narusawa H, Matsuoka K, Fukami M, Nagasaki K, Kagami M. Beckwith-Wiedemann syndrome with long QT caused by a deletion involving KCNQ1 but not KCNQ1OT1:TSS-DMR. Eur J Med Genet. 2022 in press

受賞

鏡雅代　　　第22回川野賞基礎医学分野

張若谷　　　滋慶教育科学研究所（略称JESC）奨励賞

鳴海覚志　　日本小児科学会 学術研究賞

成澤宏宗　　第25回小児分子内分泌研究会 優秀演題賞

秋葉和壽　　日本人類遺伝学会第67回大会 大会最優秀ポスター賞

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