How Do Genetic Variations Affect Tissue Structure?

Genetic variations can influence tissue structure in numerous ways. For instance:

Point mutations in genes encoding for structural proteins can lead to defective tissue architecture, as seen in connective tissue disorders like Marfan syndrome.
Copy number variations can result in overexpression or underexpression of genes, affecting cellular proliferation and differentiation.
Epigenetic modifications, such as DNA methylation and histone acetylation, can alter gene expression patterns without changing the DNA sequence itself, impacting tissue homeostasis and pathology.