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Function

The function of titin doesn’t not include muscle contraction it basically ensures elasticity and even the stability of the muscle. To do this it stabilizes the thick filaments by centering between the thin filaments. It also prevents the sarcomere from over-stretching by recoiling the sarcomere like a spring. Titin increases its length under some applied force and then returns to its original length once the applied force is removed.

Cardiac Muscle

Titin plays a crucial role in the determinant of diastolic function. It influences the rigidity of cardiomyocyte and even the passive properties of the ventricle^[3].In the heart titin does more than determine ventricular rigidity; while the muscle is stretched it generates passive tension and while the sarcomere shortens it generates a restoring force. This allows a fast recovery rate of the resting length of the sarcomere. The restoring force due to the titin increases ventricular filling especially in the initial diastolic phase. This would be important during physical exertion or even tachycardia situations^[4]. Titin also helps signaling the end of muscle contraction due to sarcomere’s shortened length lower than resting length, which in turn signals the titin to deactivate the cross-bridges.

Mutations

Titin plays a important role in the elasticity of muscles, but a mutation in a gene called TTN plays a huge role in heart failure. The mutation causes the muscles in the heart to become large and weak which makes pumping blood difficult in the body. The lack of oxygen and nutrients in the body causes shortness of breath and retains fluid. The only option in this case is to have a heart transplant. This condition is called dilated cardiomyopathy and about one percent of the population has this. Research from The National Heart Center Singapore and others has shown that even if the mutation has not been expressed one could be at the risk of heart failure^[5].

The conclusion that Titin was involved in this heart diseases took a long time was because Titin is a huge protein and back then it was hard and expensive to sequence something this big so they overlooked this protein. Over the last decade technology has drastically changed making it easier, cheaper and faster to sequence a large sequence. This is when they acknowledge the fact that a mutation in the TTN gene plays a big role in dilated cardiomyopathy^[6].

References

1. ↑ "Titin." Wikipedia. Wikimedia Foundation, 30 Apr. 2017. Web. 01 May 2017.
2. ↑ Hindawi. "Roles of Titin in the Structure and Elasticity of the Sarcomere." BioMed Research International. Hindawi Publishing Corporation, 21 June 2010. Web. 01 May 2017.
3. ↑ Castro-Ferreira, Ricardo, and Ricardo Fontes-Carvalho. "SciFinder." The role of titin in the modulation of cardiac function and its pathophysiological implications. Sociedade Brasileira De Cardiologia, n.d. Web. 13 Feb. 2017.
4. ↑ Castro-Ferreira, Ricardo, and Ricardo Fontes-Carvalho. "SciFinder." The role of titin in the modulation of cardiac function and its pathophysiological implications. Sociedade Brasileira De Cardiologia, n.d. Web. 13 Feb. 2017.
5. ↑ Dodgson, Lindsay. "There's a Genetic Mutation Which Means 35 Million People Have a Heart That Is at Risk of failing." Business Insider. Business Insider, 03 Jan. 2017. Web. 01 May 2017.
6. ↑ Dodgson, Lindsay. "There's a Genetic Mutation Which Means 35 Million People Have a Heart That Is at Risk of failing." Business Insider. Business Insider, 03 Jan. 2017. Web. 01 May 2017.