Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy

Article Abstract:

Mutations in the genes for some proteins in heart muscle may cause some types of cardiomyopathy. Cardiomyopathy is the medical term for heart disease that does not involve the coronary arteries or heart valves. This study of five families shows that cardiomyopathy may be a muscle defect.

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Missense mutations in the BCS1L gene as a cause of the Bjornstad syndrome

Article Abstract:

A study demonstrates that mutations in the BSC1L gene cause the Bjornstad syndrome by disrupting the assembly of mitochondrial respirasomes, which are the basic unit for respiration in human mitochondria. Mutations that cause the Bjornstad syndrome illustrate the acute sensitivity of ear and hair tissues to mitochondrial function, particularly to the production of reactive oxygen species.

United States, Science & research, Care and treatment, Research, Diagnosis, Human chromosome abnormalities, Disease/Disorder overview

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Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease

Article Abstract:

Mutations in the gene for lamin appear to cause some types of heart failure. Lamin is a protein in the membrane surrounding the cell nucleus. In a study of 11 families with a type of heart disease called dilated cardiomyopathy, researchers identified five new mutations in the lamin gene. These families had a history of sudden death and heart failure but no joint diseases or skeletal muscle diseases. It is not exactly clear how lamin mutations cause heart disease but they may disrupt cell function, causing the cell to die.

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