Session Details

[P1-10]Poster Session 1-10 Metabolic and Mitochondrial Disorders

Thu. Oct 10, 2024 4:50 PM - 5:50 PM JST
Thu. Oct 10, 2024 7:50 AM - 8:50 AM UTC
Poster Room

[P1-10-1]Investigation of myocardial mitochondrial function in the Duchenne muscular dystrophy model rats

Itsumi Sato1, Atsuhito Takeda1, Yuma Yamada2 (1.Department of Pediatrics, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, 2.Hokkaido university faculty of pharmaceutical sciences)

[P1-10-2]Influence of heterozygosity in genomic variations of metabolic disorders

Kazuro Shimokawa1, Shunpei Ishikawa1, Hiroshi Tanaka1, Yuko Oho2 (1.University of Tokyo, Tokyo, Japan, 2.Jissen Women's University, Tokyo, Japan)

[P1-10-3]Large deletion involving enhancer region of the OTC gene identified in a OTC deficient-family by whole-genome sequencing

Yasuaki Yasuda1, Yoko Nakajima1, Yuta Sudo1, Rie Kawamura2, Hidehito Inagaki2, Tetsuya Ito2, Hiroki Kurahashi2 (1.Department of Pediatrics, Fujita Health University School of Medicine, Toyoake, Japan, 2.Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan)

[P1-10-4]A case of Chinese male living in Japan diagnosed with MODY12 as juvenile diabetes

Takuya Watanabe1,3, Atsushi Ozawa2, Yuichi Temma3, Yui Nakamura1, Kenji Kunieda1, Megumi Furuhata1, Kenichiro Hata2 (1.Division of Medical Genetics, Saku Central Hospital Advanced Care Center, Saku, Japan, 2.Division of Genetics, Gunma University Hospital, Maebashi, Japan, 3.Department of Diabetes and Endocrinology, Saku Central Hospital Advanced Care Center, Saku, Japan)

[P1-10-5]Whole Exome Sequencing revealed a novel PDX1 missense variants Arg148Leu in Japanese MODY4 patients

Satoshi Tanaka1,2, Hiroyuki Akagawa1,3, Naoko Iwasaki1,2,4 (1.Tokyo Women's Medical University Institute for Comprehensive Medical Sciences, 2.Diabetes and Metabolism, School of Medicine, Tokyo Women's Medical University, 3.Department of Neurosurgery, Tokyo Women's Medical University Adachi Medical Center, 4.Division of Diabetes, Endocrinology and Metabolism, Tokyo Women's Medical University Yachiyo Medical Center)

[P1-10-6]Japanese carriers of a high-risk variant of type 2 diabetes in Inuit population

Yaeko Ichikawa1, Yoshikazu Sumitani2, Atsuko Gyohda1, Shin-ichi Tokushige1, Ayumi Uchibori1, Hiroyuki Ishiura3, Jun Mitsui4,5, Shoji Tsuji6, Tatsushi Toda5, Kazuki Yasuda2 (1.Department of Neurology, Kyorin University, Tokyo, Japan, 2.Department of Diabetes, Endocrinology and Metabolism, Kyorin University, Tokyo, Japan, 3.Department of Neurology, Okayama University Graduate School of Medicine, Okayama, Japan, 4.Department of Precision Medicine Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan, 5.Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan, 6.Institute of Medical Genomics, International University of Health and Welfare, Chiba, Japan)

[P1-10-7]Mosaic Pathogenic Variant in the THRB Gene Associated with Syndrome of Resistance to Thyroid Hormone

Okihide Suzuki1, Yuriko Yamazaki3, Chikahiko Numakura4,5, Junichiro Adachi3, Yoshiko Mori1,2, Noriko Tanabe1, Akira Ohtake4,5, Yoshihiko Izumida3, Hideyuki Ishida1,2 (1.Department of Clinical Genetics, Saitama Medical Center, Saitama Medical University, Saitama, Japan, 2.Department of Digestive Tract and General Surgery, Saitama Medical Center, Saitama Medical University, Saitama, Japan, 3.Department of Endocrinology and Diabetes, Saitama Medical Center, Saitama Medical University, Saitama, Japan, 4.Department of Pediatrics, Saitama Medical University, Saitama, Japan, 5.Department of Clinical Genomics, Saitama Medical University, Saitama, Japan)

[P1-10-8]Hepatic mitochondrial DNA depletion syndrome caused by MICOS complex defects

Yoshihito Kishita1,2, Ayumu Sugiura2, Nanako Omichi1, Masaru Shimura3, Yukiko Yatsuka2, Kouta Nakamura2, Toju Tanaka4, Mitsuru Kubota5, Kei Murayama2,3, Akira Ohtake6, Yasushi Okazaki2,7 (1.Department of Life Science, Faculty of Science and Engineering, Kindai University, Osaka, Japan, 2.Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Re search Center, Juntendo University, Graduate School of Medicine, Tokyo, Japan, 3.Department of Metabolism, Chiba Children's Hospital, Chiba, Japan, 4.Department of Pediatrics, National Hospital Organization Hokkaido Medical Center, Sapporo, Japan, 5.Department of General Pediatrics and Interdisciplinary Medicine, National Center for Child Health and Development, Tokyo, Japan, 6.Department of Pediatrics and Clinical Genomics, Saitama Medical University, Moroyama, Saitama, Japan, 7.Laboratory for Comprehensive Genomic Analysis, RIKEN Center for Integrative Medical Sciences, Kanagawa, Japan)

[P1-10-9]A frameshift variant of the nuclear receptor binding factor-2 (NRBF2) in a patient with resistance to thyroid hormone syndrome (RTH): A long-sought second gene for RTH

Ching-Wan Lam (Department of Pathology, School of Cinical Medicine, The University of Hong Kong, Hong Kong, China)

[P1-10-10]Newborn genetic screening for Fabry disease: insights from a retrospective analysis in Nanjing, China

Xin Wang, Yun Sun, Xian-Wei Guan, Yan-Yun Wang, Dong-Yang Hong, Zhi-Lei Zhang, Ya-Hong Li, Pei-Ying Yang, Tao Jiang, Zheng-Feng Xu (Genetic Medicine Center, Women’s Hospital of Nanjing Medical University)

[P1-10-11]Advancing Newborn Genetic Screening for Lysosomal Storage Disorders: A Comparative Analysis of Fluorometric and Mass-Spectrometric Methods

Zhilei Zhang, Xin Wang, Dongyang Hong, Xianwei Guan, Yanyun Wang, Yahong Li, Peiying Yang, Tao Jiang, Yun Sun, Zhengfeng Xu (The affiliated Obstetrics and Gynecology Hospital with Nanjing Medical University, Nanjing Women and Children's Healthcare Hospital)

[P1-10-12]Establishment and Evaluation of a Method for Measuring Ornithine Transcarbamylase Activity in Micro Blood of Neonates

Zhilei Zhang, Xin Wang, Jingjing Zhang, Xianwei Guan, Yanyun Wang, Dongyang Hong, Yahong Li, Peiying Yang, Yun Sun, Tao Jiang (The affiliated Obstetrics and Gynecology Hospital with Nanjing Medical University, Nanjing Women and Children's Healthcare Hospital)

[P1-10-13]Methylmalonic acid impairs liver function by disturbing calcium homeostasis and mitophagy in hepatocytes

Zhilei Zhang, Yun Sun, Xin Wang, Yanyun Wang, Yahong Li, Peiying Yang, Tao Jiang (The affiliated Obstetrics and Gynecology Hospital with Nanjing Medical University, Nanjing Women and Children's Healthcare Hospital)

[P1-10-14]Mitochondrial hearing loss in our department

Toru Miwa1,2, Hirokazu Sakamoto1 (1.Department of Otolaryngology, Osaka Metropolitan university, 2.Department of Otolaryngology-Head and Neck Surgery, Kyoto University)

[P1-10-15]Four cases of genetic diagnosis of Syndrome of resistance to thyroid hormone, one with a novel variant

Yoshihiro Takahashi1,2, Yukio Horikawa1,2, Kimiko Asai2, Yumi Matsuyama2, Shigenori Nakamura3, Takuo Hirota1 (1.Department of Diabetes, Endocrinology and Metabolism and Department of Rheumatology and Clinical Immunology, Gifu University Graduate School of Medicine, Gifu, Japan, 2.Department of Clinical Genetics Center, Gifu University Hospital, Gifu, Japan, 3.Thyroid and Diabetic Division, Department of Internal Medicine, Japanese Red Cross Gifu Hospital, Gifu, Japan)

[P1-10-16]Changes in heteroplasmy rate over time in cases of m.8993T>G mutation that resulted in pregnancy after PGT-M

Nozomi Uemura1,2, Akira Namba1,2, Eri Shijiki1, Megumi Tsuruoka1, Shino Sasaki4, Naoki Hayashi4, Hazuki Sato1, Sayaka Ajihara1,3, Yusuke Naritsuka1, Yosuke Mizuno1, Yoshimasa Kamei2, Akira Ohtake1, Numakura Chikahiko1 (1.Department of Genomic Medicine, Saitama Medical University, Saitama, Japan, 2.Department of Obstetrics and gynecology, Saitama Medical University, 3.Department of Pediatrics, Saitama Medical University, 4.Women's Clinic Fujimino)