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Mutation in this cell component can cause both DCM and HCM?

User Siddhi
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Final answer:

Mutations in cell components can cause cardiac disorders such as DCM and HCM by leading to abnormal cell communication, notably in the endocardium, influencing the onset of conditions like NSML. This highlights potential treatment targets and a different perspective on the origins of common cardiac diseases.

Step-by-step explanation:

Mutations in a specific cell component can cause both dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM). These conditions are types of cardiac disorders that affect the heart's ability to pump blood effectively. For example, an abnormality in cell communication due to a mutation such as PTPN11 can lead to cardiac hypertrophy in disorders like Noonan Syndrome with Multiple Lentigines (NSML). Research has shown that mutations expressed in the endocardium, the inner lining of the heart, can lead to hypertrophy rather than mutations in myocardial cells, which form the heart muscle.

These discoveries help us understand the etiology of common cardiac disorders and could provide insight into potential targets for treatment. Furthermore, mutations that accumulate in somatic cells can lead to problems such as uncontrolled cell division and cancer, whereas germline mutations can be transmitted to subsequent generations, causing hereditary diseases.

User Jack Vial
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