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Published on: December 14, 2015
Keratin disorders: from gene to therapy
W H Irwin McLean1, C B Tara Moore
1Division of Molecular Medicine, Colleges of Life Sciences and Medicine, Dentistry & Nursing, University of Dundee, Dundee, UK. w.h.i.mclean@dundee.ac.uk
Human Molecular Genetics
|September 6, 2011
Summary
Keratin disorders, caused by inherited defects in epithelial keratins, affect skin, hair, and nails. RNA interference therapies show promise for treating these genetic conditions by silencing mutant alleles.
Area of Science:
- Molecular biology
- Genetics
- Dermatology
Background:
- Keratins are epithelial cytoskeletal proteins, with 54 identified in mammals.
- Inherited keratin defects cause epithelial tissue fragility.
- Hair follicles utilize trichocyte keratins, with many unlinked to human disorders.
Purpose of the Study:
- To review keratin structure, function, and associated genetic disorders.
- To explore the potential of RNA interference (RNAi) therapeutics for keratinopathies.
Main Methods:
- Literature review of keratin genetics and disorders.
- Analysis of recent advances in RNA interference (RNAi) technology.
Main Results:
- Keratin disorders are dominant-negative genetic conditions with significant healthcare impact.
- RNAi therapeutics, specifically small-interfering RNAs (siRNAs), demonstrate high specificity and potency.
- Mutant-specific siRNAs have been developed for conditions like epidermolysis bullosa simplex and pachyonychia congenita.
Conclusions:
- RNAi offers a promising therapeutic avenue for keratin disorders.
- Targeted gene silencing via siRNAs represents a potential breakthrough in treating genetic skin and hair conditions.
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