Dilated Cardiomyopathy 1 & 2 are caused by mutations in two independent genes that have been associated with dilated cardiomyopathy. Specifically, a deletion of 16 DNA bases in the pyruvate dehydrogenase kinase 4 (PDK4) gene, known as DCM1, results in a gene product suspected to cause cardiac issues. The DCM1 variant is predicted to alter the mitochondrial PDK4 protein assembly pattern because it eliminates a splice site. Since mitochondria are one of the major sites of energy generation within a cell, the resulting negative impact of reduced energy generation within cardiac tissue is hypothesized to result in cardiomyopathy. The second associated variant is a missense mutation in the Titin gene (TTN) gene known as DCM2. The DCM2 variant changes an amino acid conserved across mammals, is predicted to alter one of the gene products (protein) immunoglobulin – like (Ig) domains. The Ig domains function like springs within a muscle fiber, and the variant is predicted to reduce the elastic nature of the protein, negatively impacting cardiac function.
Method
Sanger Sequencing
Sample Type
EDTA Blood (>=3mL)
Transport Condition
The sample should be transported at 4°C. (Refer to MBG-C0014)
Turn Around Time (TAT)
The Turnaround (TAT) for routine samples is within 5 working days.
Samples delivered after 11:00 AM will be processed next working day (unless urgent).
Urgent Samples will be reported within 72 hours and will be charged double.
Dilated Cardiomyopathy 1 & 2 are caused by mutations in two independent genes that have been associated with dilated cardiomyopathy. Specifically, a deletion of 16 DNA bases in the pyruvate dehydrogenase kinase 4 (PDK4) gene, known as DCM1, results in a gene product suspected to cause cardiac issues. The DCM1 variant is predicted to alter the mitochondrial PDK4 protein assembly pattern because it eliminates a splice site. Since mitochondria are one of the major sites of energy generation within a cell, the resulting negative impact of reduced energy generation within cardiac tissue is hypothesized to result in cardiomyopathy. The second associated variant is a missense mutation in the Titin gene (TTN) gene known as DCM2. The DCM2 variant changes an amino acid conserved across mammals, is predicted to alter one of the gene products (protein) immunoglobulin – like (Ig) domains. The Ig domains function like springs within a muscle fiber, and the variant is predicted to reduce the elastic nature of the protein, negatively impacting cardiac function.
Method
Sanger Sequencing
Sample Type
EDTA Blood (>=3mL)
Transport Condition
The sample should be transported at 4°C. (Refer to MBG-C0014)
Turn Around Time (TAT)
The Turnaround (TAT) for routine samples is within 5 working days.
Samples delivered after 11:00 AM will be processed next working day (unless urgent).
Urgent Samples will be reported within 72 hours and will be charged double.
