Novel Mutation Lys30Glu in the TPM1 Gene Leads to Pediatric Left Ventricular Non-Compaction and Dilated Cardiomyopathy via Impairment of Structural and Functional Properties of Cardiac Tropomyosin
Elena V Zaklyazminskaya, Victoria V Nefedova, Natalia A Koubassova, Natalia P Kotlukova, Galina V Kopylova, Anastasia M Kochurova, Daniil V Shchepkin, Natalia S Ryabkova, Ivan A Katrukha, Sergey Y Kleymenov, Sergey Y Bershitsky, Alexander M Matyushenko, Andrey K Tsaturyan, Dmitrii I Levitsky, Michae · 2024
Read Novel Mutation Lys30Glu in the TPM1 Gene Leads to Pediatric Left Ventricular Non-Compaction and Dilated Cardiomyopathy via Impairment of Structural and Functional Properties of Cardiac Tropomyosin by Elena V Zaklyazminskaya, Victoria V Nefedova, Natalia A Koubassova, Natalia P Kotlukova, Galina V Kopylova, Anastasia M Kochurova, Daniil V Shchepkin, Natalia S Ryabkova, Ivan A Katrukha, Sergey Y Kleymenov, Sergey Y Bershitsky, Alexander M Matyushenko, Andrey K Tsaturyan, Dmitrii I Levitsky, Michae (2024) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-11641563.txt.
Description
Zaklyazminskaya and co-authors report a new gene change behind a severe childhood heart muscle disease. A child with a widened, weak heart and a spongy heart wall carried a fresh change in the TPM1 gene, which codes for a key heart muscle protein. The child reached terminal heart failure before age four. Their study was published in 2024.
The team made the altered protein in the lab and compared it with the normal form. The change made the protein less stable under heat and slowed the sliding of muscle filaments across a wide range of calcium levels. Computer models suggest the change alters how the protein grips its partner filament. That grip change may block the step where muscle heads pull with force.
Catalog record
| CREATOR | Elena V Zaklyazminskaya, Victoria V Nefedova, Natalia A Koubassova, Natalia P Kotlukova, Galina V Kopylova, Anastasia M Kochurova, Daniil V Shchepkin, Natalia S Ryabkova, Ivan A Katrukha, Sergey Y Kleymenov, Sergey Y Bershitsky, Alexander M Matyushenko, Andrey K Tsaturyan, Dmitrii I Levitsky, Michae |
|---|---|
| YEAR | 2024 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 48 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |