A8V

{{For other uses|Seversky 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⁺).{{Cite journal|last1=Ohtsuki|first1=Iwao|last2=Morimoto|first2=Sachio|date=April 2008|title=Troponin: Regulatory function and disorders|journal=Biochemical and Biophysical Research Communications|volume=369|issue=1|pages=62–73|doi=10.1016/j.bbrc.2007.11.187|pmid=18154728}}{{Cite journal|last1=Solaro|first1=R. John|last2=Rosevear|first2=Paul|last3=Kobayashi|first3=Tomoyoshi|date=April 2008|title=The unique functions of cardiac troponin I in the control of cardiac muscle contraction and relaxation|journal=Biochemical and Biophysical Research Communications|volume=369|issue=1|pages=82–87|doi=10.1016/j.bbrc.2007.12.114|pmc=2365727|pmid=18162178}} This mutation is determined by the change of Alanine to Valine at nucleotide 23 from C to T.{{Cite journal|last1=Kalyva|first1=Athanasia|last2=Parthenakis|first2=Fragiskos I.|last3=Marketou|first3=Maria E.|last4=Kontaraki|first4=Joanna E.|last5=Vardas|first5=Panos E.|date=April 2014|title=Biochemical characterisation of Troponin C mutations causing hypertrophic and dilated cardiomyopathies|journal=Journal of Muscle Research and Cell Motility|volume=35|issue=2|pages=161–178|doi=10.1007/s10974-014-9382-0|pmid=24744096|s2cid=1726747|issn=0142-4319}} 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.{{Cite journal|last1=Pinto|first1=Jose Renato|last2=Parvatiyar|first2=Michelle S.|last3=Jones|first3=Michelle A.|last4=Liang|first4=Jingsheng|last5=Ackerman|first5=Michael J.|last6=Potter|first6=James D.|date=2009-07-10|title=A Functional and Structural Study of Troponin C Mutations Related to Hypertrophic Cardiomyopathy|journal=Journal of Biological Chemistry|volume=284|issue=28|pages=19090–19100|doi=10.1074/jbc.M109.007021|issn=0021-9258|pmc=2707221|pmid=19439414|doi-access=free}} Also, A8V affects the Ca²⁺ binding affinity compared to normal genotype and increased sensitivity on force development.