Gene DSP

Also known as

ARVD8, DCWHKTA, desmoplakin

Overview

DSP (Desmoplakin) encodes the most abundant protein in desmosomes, linking the desmosomal cadherins to intermediate filaments and providing essential mechanical strength to tissues subjected to physical stress. Desmoplakin is expressed in all desmosome-containing tissues including heart, skin, and hair follicles.

Mutations in DSP cause several conditions including arrhythmogenic cardiomyopathy (both right and left ventricular forms), skin fragility syndromes, and hair abnormalities. DSP mutations are among the most common causes of arrhythmogenic cardiomyopathy and are particularly associated with left-dominant forms and high risk of sudden death. Some mutations cause combined skin and cardiac disease.

Understanding your DSP genetic status is critical for evaluation of cardiomyopathy and unexplained ventricular arrhythmias. DSP-related cardiomyopathy often has aggressive features with high sudden death risk, making early identification and intervention essential. Cascade genetic screening of family members is strongly recommended.

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 DSP through your personalized DNA reports.