LMNA Q353R Mutation Causes Dilated Cardiomyopathy Through Impaired Vitamin D Signaling

Masamichi Ito^{1

2}, Manami Katoh^{1

3

4}, Tatsuro Sassa¹, Toshiyuki Ko^{1

3}, Kanna Fujita¹, Shintaro Yamada¹, Koichiro Miura⁵, Masashi Toyoda⁶, Shuji Takada⁷, Takashige Tobita⁸, Mikako Katagiri¹, Masayuki Kubota¹, Takanobu Yamada¹, Satoshi Hatsuse¹, Hiroyuki Morita¹, Masashi Ikeuchi⁹, Katsuhisa Matsuura⁵, Akihiro Umezawa⁶, Seitaro Nomura^{1

3

4}, Hiroyuki Aburatani⁴, Issei Komuro^{1

3

10}

Affiliations

¹ Department of Cardiovascular Medicine (M. Ito, M. Katoh, T.S., T.K., K.F., S.Y., M. Katagiri, M. Kubota, T.Y., S.H., H.M., S.N., I.K.), Graduate School of Medicine, The University of Tokyo, Bunkyo-ku, Japan.
² Department of Advanced Clinical Science and Therapeutics (M. Ito), Graduate School of Medicine, The University of Tokyo, Bunkyo-ku, Japan.
³ Department of Frontier Cardiovascular Science (M. Katoh, T.K., S.N., I.K.), Graduate School of Medicine, The University of Tokyo, Bunkyo-ku, Japan.
⁴ Genome Science Division, Research Center for Advanced Science and Technology, The University of Tokyo, Meguro-ku, Japan (M. Katoh, S.N., H.A.).
⁵ Institute of Advanced Biomedical Engineering and Science (K. Miura, K. Matsuura), Tokyo Women's Medical University, Shinjuku-ku, Japan.
⁶ Center for Regenerative Medicine (M.T., A.U.), National Center for Child Health and Development Research Institute, Setagaya-ku, Tokyo, Japan.
⁷ Department of Systems BioMedicine (S.T.), National Center for Child Health and Development Research Institute, Setagaya-ku, Tokyo, Japan.
⁸ Department of Cardiology (T.T.), Tokyo Women's Medical University, Shinjuku-ku, Japan.
⁹ Department of Biodesign, Division of Biofunctional Restoration Institute of Biomaterials and Bioengineering, Tokyo Medical and Dental University, Chiyoda-ku, Japan (M. Ikeuchi).
¹⁰ International University of Health and Welfare, Minato-ku, Tokyo, Japan (I.K.).

Case Reports

Masamichi Ito et al. Circulation. 2024.

. 2024 Sep 17;150(12):971-974.

doi: 10.1161/CIRCULATIONAHA.124.069972. Epub 2024 Sep 16.

¹ Department of Cardiovascular Medicine (M. Ito, M. Katoh, T.S., T.K., K.F., S.Y., M. Katagiri, M. Kubota, T.Y., S.H., H.M., S.N., I.K.), Graduate School of Medicine, The University of Tokyo, Bunkyo-ku, Japan.
² Department of Advanced Clinical Science and Therapeutics (M. Ito), Graduate School of Medicine, The University of Tokyo, Bunkyo-ku, Japan.
³ Department of Frontier Cardiovascular Science (M. Katoh, T.K., S.N., I.K.), Graduate School of Medicine, The University of Tokyo, Bunkyo-ku, Japan.
⁴ Genome Science Division, Research Center for Advanced Science and Technology, The University of Tokyo, Meguro-ku, Japan (M. Katoh, S.N., H.A.).
⁵ Institute of Advanced Biomedical Engineering and Science (K. Miura, K. Matsuura), Tokyo Women's Medical University, Shinjuku-ku, Japan.
⁶ Center for Regenerative Medicine (M.T., A.U.), National Center for Child Health and Development Research Institute, Setagaya-ku, Tokyo, Japan.
⁷ Department of Systems BioMedicine (S.T.), National Center for Child Health and Development Research Institute, Setagaya-ku, Tokyo, Japan.
⁸ Department of Cardiology (T.T.), Tokyo Women's Medical University, Shinjuku-ku, Japan.
⁹ Department of Biodesign, Division of Biofunctional Restoration Institute of Biomaterials and Bioengineering, Tokyo Medical and Dental University, Chiyoda-ku, Japan (M. Ikeuchi).
¹⁰ International University of Health and Welfare, Minato-ku, Tokyo, Japan (I.K.).

No abstract available

Keywords: DNA damage; cardiomyocytes; dilated cardiomyopathy; drug screening; heart failure; human induced pluripotent stem cells; vitamin D.

Conflict of interest statement

None.