徳島大学 / 教育研究者総覧 --- Nazere Keyoumu

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徳島大学 ⟩ 大学院医歯薬学研究部 ⟩ 医学域 ⟩ 先端基礎医学教育研究プロジェクト ⟩
徳島大学 ⟩ 大学院医歯薬学研究部 ⟩ 医学域 ⟩ 医科学部門 ⟩ 生理系 ⟩ 遺伝情報医学 ⟩

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研究活動

専門分野

研究テーマ

著書・論文

学術論文(審査論文):

1.	Kenta Hanada, Yusuke Osaki, Ryosuke Miyamoto, Kohei Muto, Shotaro Haji, Keyoumu Nazere, Yuki Kuwano, Hiroyuki Morino, Yoshiteru Azuma, Satoko Miyatake, Naomichi Matsumoto and Yuishin Izumi : Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case report., Human Genome Variation, Vol.11, No.1, 2024. (要約) Charcot-Marie-Tooth disease type 2Z is caused by MORC2 mutations and presents with axonal neuropathy. MORC2 mutations can also manifest as developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (DIGFAN). We report a patient exhibiting an intermediate phenotype between these diseases associated with a novel MORC2 variant. A literature review revealed that the genotype‒phenotype correlation in MORC2-related disorders is complex and that the same mutation can cause a variety of phenotypes. (徳島大学機関リポジトリ) ● Metadata: 2012806 (出版サイトへのリンク) ● Publication site (DOI): 10.1038/s41439-024-00287-8 (文献検索サイトへのリンク) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 39143067 ● Search Scopus @ Elsevier (PMID): 39143067 ● Search Scopus @ Elsevier (DOI): 10.1038/s41439-024-00287-8 (徳島大学機関リポジトリ: 2012806, DOI: 10.1038/s41439-024-00287-8, PubMed: 39143067)
2.	Takafumi Tomenaga, Shinobu Minatani, Hiroto Namba, Akitoshi Takeda, Takahito Yoshizaki, Joji Kawabe, Keyoumu Nazere, Hiroyuki Morino, Makoto Higuchi, Tomoyasu Matsubara, Hiroyuki Hatsuta, Masato Hasegawa, Shigeo Murayama and Yoshiaki Itoh : An autopsy case of type A FTLD-TDP with a GRN mutation presenting with the logopenic variant of primary progressive aphasia at onset and with corticobasal syndrome subsequently., Neuropathology, 2024. (要約) A 68-year-old woman presented with difficulty finding words and writing characters. Neurological examination led to clinical diagnosis at onset of the logopenic variant of primary progressive aphasia accompanied with ideomotor apraxia, visuospatial agnosia on the right, and Gerstmann syndrome. Bradykinesia and rigidity on the right with shuffling gait developed after one year. Treatment with L-dopa had no effect. The patient was diagnosed with corticobasal syndrome (CBS). Brain magnetic resonance imaging revealed diffuse cortical atrophy dominantly on the left, especially in the temporal, parietal, and occipital lobes. Positron emission tomography did not reveal any significant accumulation of amyloid β or tau protein. She died five years later. Neuropathological examination revealed diffuse cortical atrophy with severe neuronal loss and fibrous gliosis in the cortex. Neuronal cytoplasmic inclusions, short dystrophic neurites, and, most notably, neuronal intranuclear inclusions, all immunoreactive for phosphorylated TDP-43, were observed. Western blotting revealed a full length and fragments of phosphorylated TDP-43 at 45 and 23kDa, respectively, confirming the pathological diagnosis of type A FTLD-TDP. Whole exome sequencing revealed a pathogenic mutation in GRN (c.87dupC). FTLD-TDP should be included in the differential diagnosis of CBS. (出版サイトへのリンク) ● Publication site (DOI): 10.1111/neup.12980 (文献検索サイトへのリンク) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 38715398 ● Search Scopus @ Elsevier (PMID): 38715398 ● Search Scopus @ Elsevier (DOI): 10.1111/neup.12980 (DOI: 10.1111/neup.12980, PubMed: 38715398)

国際会議:

1.	山内翔葵, 橘このか, 宮本亮介, 村瀬永子, 武藤浩平, 福本竜也, 桑野由紀, Nazere Keyoumu, 梶龍兒, 森野豊之, 和泉唯信 : 本邦におけるVPS16ジストニア (DYT-VPS16) の臨床的特徴, 第65回日本神経学会学術大会/AOCN2024, 2024年6月.
2.	Keyoumu Nazere, Konoka Tachibana, Yuki Kuwano, Ryosuke Miyamoto, Ryuji Kaji, Yuishin Izumi and Hiroyuki Morino : The identification and functional analysis of novel variants in ADCY5- related movement disorders, 第65回日本神経学会学術大会/AOCN2024, May 2024.
3.	Yuki Kuwano, Keyoumu Nazere and Hiroyuki Morino : The biological role of m6A RNA methylation in cytoplasmic localization of TDP-43, 第65回日本神経学会学術大会/AOCN2024, May 2024.

国内講演発表:

1.	桑野由紀, Nazere Keyoumu, 西田憲生, 森野豊之 : 抗老化RNA uc.138 のm6Aメチル化修飾を介した大腸がん悪性化メカニズム, 第46回日本分子生物学会年会, 2023年12月.
2.	山内翔葵, 宮本亮介, 武藤浩平, 桑野由紀, Nazere Keyoumu, 西田憲生, 橘このか, 和泉唯信, 森野豊之 : 表現型に基づく優先順位付けを用いたALSの病的バリアント検索, 第64回日本神経学会学術大会, 2023年6月.

その他・研究会:

1.	桑野由紀, Nazere Keyoumu, 森野豊之 : m6A RNAメチル化がトリガーするALS原因因子TDP-43の細胞質封入体形成の調節機構, 先端酵素学研究所交流シンポジウム, 2024年8月.

科学研究費補助金 (KAKEN Grants Database @ NII.ac.jp)

研究者番号（60976108）による検索