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Archive for February 23rd, 2012

Titin implicated in DCM

23 Feb, 12 | by Alistair Lindsay

Dilated cardiomyopathy (DCM) is the most common form of non-ischemic cardiomyopathy.  While clinical evaluation identifies 30 to 50% of DCM patients as having a relative who is affected or likely to be affected, indicating a possible genetic cause, pathogenic mutations are found in only 20 to 30% of patients.  Therefore a large degree of uncertainty remains regarding the genetic causes of DCM.  TTN, the gene encoding titin, has been implicated in cardiomyopathy but has been incompletely studied, owing to technical challenges posed by the large size of its coding sequence (approximately 100 kb), translating into one of the largest human proteins, composed of approximately 33,000 amino acids. more…

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