What are the Sarcomeric proteins?

Each sarcomere is composed of two main protein filaments—actin and myosin—which are the active structures responsible for muscular contraction. The most popular model that describes muscular contraction is called the sliding filament theory.

Is titin a Sarcomeric gene?

Furthermore, the gene for titin contains the largest number of exons (363) discovered in any single gene, as well as the longest single exon (17,106 bp)….Titin.

What gene mutation causes heart disease?

Sarcomere protein gene mutations and inherited heart disease: a beta-cardiac myosin heavy chain mutation causing endocardial fibroelastosis and heart failure.

What gene causes cardiomyopathy?

Mutations in one gene, TTN, account for approximately 20 percent of cases of familial dilated cardiomyopathy. The TTN gene provides instructions for making a protein called titin, which is found in the sarcomeres of many types of muscle cells, including cardiomyocytes.

What is the largest known protein?

Titin
Titin, is definitely the largest protein in the body, with a molecular weight of 3 million Dalton and composed of 27,000 amino acids. Paradoxically, this huge structure was elusive until the last decade but, since it was described in muscle tissue, its importance has rapidly emerged.

Is ATP needed for muscle contraction?

When actin handholds are exposed by calcium binding to the actin microfilament, myosin spontaneously grabs an actin handhold and pulls once. In order for it to release that handhold and pull again, ATP must provide energy for the release motion. Thus, ATP is consumed at a high rate by contracting muscles.

Is titin a thick or thin filament?

Titin is a huge, 4.2 MDa, filamentous protein located in the sarcomere of striated muscle. Extending from its N-terminus anchored in the Z-disc to its C-terminus bound to thick filaments in the M-band, titin is largely responsible for the passive stiffness of the myocardium exhibited during diastolic filling.

What are the five risk factors for heart disease?

There are five important heart disease risk factors that you can control. A poor diet, high blood pressure and cholesterol, stress, smoking and obesity are factors shaped by your lifestyle and can be improved through behavior modifications. Risk factors that cannot be controlled include family history, age and gender.

How much of a role does genetics play in heart disease?

Genetics can influence the risk for heart disease in many ways. Genes control every aspect of the cardiovascular system, from the strength of the blood vessels to the way cells in the heart communicate. A genetic variation (mutation) in a single gene can affect the likelihood of developing heart disease.

Can a sarcomeric protein cause hypertrophic cardiomyopathy?

Over the last two decades, a large number of mutations have been identified in sarcomeric proteins as a cause of hypertrophic, dilated or restrictive cardiomyopathy.

How are mutations in sarcomeric proteins related to DCM?

Mutations in sarcolemmal transmembrane proteins, cytoskeletal proteins and nuclear envelope proteins are the other important causes of DCM and are being discussed elsewhere. 6 2. Mutations in genes for the thin filament proteins

What kind of mutations are found in inherited cardiomyopathies?

Mutations that affect adjacent amino acids in the β-myosin heavy chain, for example, cause either hypertrophic cardiomyopathy or dilated cardiomyopathy. 7 All the inherited cardiomyopathies are genetically heterogeneous; within each category there are multiple disease genes, and many different mutations, each of which is uncommon.

Are there any new treatments for inherited cardiomyopathies?

The identification of disease genes in numerous inherited diseases has raised expectations for new forms of treatment, but experience has shown that such novel therapies rarely follow. 4 For some inherited cardiomyopathies, however, there are realistic prospects that molecular insights will soon lead to novel treatments.