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Home >> Science & Technology >> Protein Misfolding & Disease
Protein Instability, Misfolding and Disease
Protein Folding and Stability in Human Genetic Diseases
Many genetic diseases can be caused by mutations that make proteins less stable or disrupt the normal three-dimensional folding of proteins. A few examples include lysososmal storage diseases (LSDs), Alzheimer’s, Parkinson’s and Huntington’s diseases, cystic fibrosis, hypercholesteremia, retinitis pigmentosa, nephrogenic diabetes insipidus, some forms of glaucoma, and cancer.
Protein Instability and Enzyme Replacement Therapy (ERT) for Lysosomal Storage Diseases (LSDs)
ERTs are the standard of care for many LSDs and are based on the intravenous infusion of recombinant or gene-activated human enzyme into the circulation. For patients with LSDs who are receiving ERT, the infused protein may unfold and lose activity at any stage in the process, from the infusion bag to the bloodstream to the eventual uptake into cells and tissue. This instability and unfolding causes the enzyme to lose activity, which may impact treatment outcomes with ERT.
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Glossary
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