A8V

A8V is point mutation on Troponin C (cTNC) that leads to a hypertrophic cardiomyopathy. The coordinated cardiac muscle contraction is regulated by the troponin complex on thin filament (troponin C which is calcium binding, troponin T that plays the role with tropomyosin, and troponin I which has an inhibitory action annulating the S1 ATPase activity in the presence of tropomyosin and troponin and absence of Ca²⁺).^[1]^[2] This mutation is determined by the change of Alanine to Valine at nucleotide 23 from C to T.^[3] Patients with this type of mutation shows thickness on the left ventricle wall of around 18 mm, compared to the normal this thickness would be 12 mm.^[3]^[4] Also, A8V affects the Ca²⁺ binding affinity compared to normal genotype and increased sensitivity on force development.^[4]

References

^ Ohtsuki, Iwao; Morimoto, Sachio (April 2008). "Troponin: Regulatory function and disorders". Biochemical and Biophysical Research Communications. 369 (1): 62–73. doi:10.1016/j.bbrc.2007.11.187. PMID 18154728.
^ Solaro, R. John; Rosevear, Paul; Kobayashi, Tomoyoshi (April 2008). "The unique functions of cardiac troponin I in the control of cardiac muscle contraction and relaxation". Biochemical and Biophysical Research Communications. 369 (1): 82–87. doi:10.1016/j.bbrc.2007.12.114. PMC 2365727. PMID 18162178.
^ ^a ^b Kalyva, Athanasia; Parthenakis, Fragiskos I.; Marketou, Maria E.; Kontaraki, Joanna E.; Vardas, Panos E. (April 2014). "Biochemical characterisation of Troponin C mutations causing hypertrophic and dilated cardiomyopathies". Journal of Muscle Research and Cell Motility. 35 (2): 161–178. doi:10.1007/s10974-014-9382-0. ISSN 0142-4319. PMID 24744096. S2CID 1726747.
^ ^a ^b Pinto, Jose Renato; Parvatiyar, Michelle S.; Jones, Michelle A.; Liang, Jingsheng; Ackerman, Michael J.; Potter, James D. (2009-07-10). "A Functional and Structural Study of Troponin C Mutations Related to Hypertrophic Cardiomyopathy". Journal of Biological Chemistry. 284 (28): 19090–19100. doi:10.1074/jbc.M109.007021. ISSN 0021-9258. PMC 2707221. PMID 19439414.

[1] Ohtsuki, Iwao; Morimoto, Sachio (April 2008). "Troponin: Regulatory function and disorders". Biochemical and Biophysical Research Communications. 369 (1): 62–73. doi:10.1016/j.bbrc.2007.11.187. PMID 18154728.

[2] Solaro, R. John; Rosevear, Paul; Kobayashi, Tomoyoshi (April 2008). "The unique functions of cardiac troponin I in the control of cardiac muscle contraction and relaxation". Biochemical and Biophysical Research Communications. 369 (1): 82–87. doi:10.1016/j.bbrc.2007.12.114. PMC 2365727. PMID 18162178.

[:0-3] Kalyva, Athanasia; Parthenakis, Fragiskos I.; Marketou, Maria E.; Kontaraki, Joanna E.; Vardas, Panos E. (April 2014). "Biochemical characterisation of Troponin C mutations causing hypertrophic and dilated cardiomyopathies". Journal of Muscle Research and Cell Motility. 35 (2): 161–178. doi:10.1007/s10974-014-9382-0. ISSN 0142-4319. PMID 24744096. S2CID 1726747.

[:1-4] Pinto, Jose Renato; Parvatiyar, Michelle S.; Jones, Michelle A.; Liang, Jingsheng; Ackerman, Michael J.; Potter, James D. (2009-07-10). "A Functional and Structural Study of Troponin C Mutations Related to Hypertrophic Cardiomyopathy". Journal of Biological Chemistry. 284 (28): 19090–19100. doi:10.1074/jbc.M109.007021. ISSN 0021-9258. PMC 2707221. PMID 19439414.

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