Gene DES

Also known as

CMD1I, CSM1, CSM2, desmin

Overview

DES (Desmin) encodes the major intermediate filament protein of muscle cells, providing structural support and connecting the contractile apparatus to the cell membrane, nucleus, and mitochondria. Desmin forms a scaffold that maintains muscle cell integrity during contraction and transmits mechanical forces throughout the cell.

Mutations in DES cause desminopathies, a group of myofibrillar myopathies affecting skeletal and cardiac muscle. Patients typically present with progressive skeletal muscle weakness and cardiomyopathy, often with conduction system disease requiring pacemaker implantation. The age of onset and severity vary considerably, with some mutations causing severe childhood-onset disease while others present in adulthood.

Understanding your DES genetic status is important for evaluation of unexplained cardiomyopathy, particularly when accompanied by skeletal muscle weakness or conduction abnormalities. Early identification enables cardiac monitoring and intervention before significant heart failure develops.

NutraHacker Raw DNA Analysis Products that include this gene

• Whole Genome Sequencing Critical Genetics Report

Upload raw DNA data to get your very own analysis of gene DES through your personalized DNA reports.