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]
Referencesedit
^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. PMC2365727. PMID 18162178.
^ abKalyva, 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.
^ abPinto, 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. PMC2707221. PMID 19439414.
February 27, 2024
point, mutation, troponin, ctnc, that, leads, hypertrophic, cardiomyopathy, coordinated, cardiac, muscle, contraction, regulated, troponin, complex, thin, filament, troponin, which, calcium, binding, troponin, that, plays, role, with, tropomyosin, troponin, wh. 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 edit 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 Retrieved from https en wikipedia org w index php title A8V amp oldid 1117019088, wikipedia, wiki, book, books, library,
