September 10, 2025Human GeneticsOpen Access

Genomic and molecular evidence that the LncRNA DSP-AS1 modulates desmoplakin expression

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Discussion

Analysis shows DSP-AS1 influences desmoplakin and cardiac conduction traits, indicating possible genetic links.

DSP-AS1 downregulation significantly upregulates desmoplakin expression, highlighting its potential role in cardiac health.
The study found an association between DSP variant rs2744389 and QRS intervals, demonstrating its connection to cardiac conduction traits.
Mendelian randomization analysis reveals causal effects of DSP-AS1 on both desmoplakin expression and QRS length in cardiomyocytes.
Functional validation using hiPSC-CMs shows that manipulating DSP-AS1 levels can effectively alter desmoplakin production, suggesting therapeutic possibilities.

Foco et al. (2025) studied this question.

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