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Lysyl-Hydroxylase 3 therapy for Recessive Dystrophic Epidermolysis Bullosa

Completed
Project leadDr. Andrew South
Organisation Thomas Jefferson University, Jefferson Medical College
Project budgetUSD 159,684.00
Start date / Duration01. Mar 2016 / 24 months
Funder(s) / Co-Funder(s) DEBRA Austria
Research area Molecular therapy, Cellular therapy

Project details

Short lay summary

Recessive dystrophic Epidermolysis Bullosa (RDEB) is a devastating disease caused by defective type VII collagen, a protein that is essential for the correct function of the skin and certain internal organs. Collagen proteins require critical processing steps in order to function correctly. We have identified that in RDEB skin, an enzyme that performs a number of these critical processing steps, lysyl hydroxylase-3 (LH3), is deficient. We also show that therapy such as bone marrow transplantation (BMT) is able to deliver increased type VII collagen but does not affect the low levels of LH3, which we believe will negatively impact therapy efficacy. This project proposes to increase our understanding of the relationship between the lack of correctly functioning type VII collagen and low levels of LH3. We will identify potential therapeutic approaches to increase LH3, a strategy which will complement existing therapy developments such as BMT and protein therapy.

What did this project achieve?

Recessive dystrophic Epidermolysis Bullosa (RDEB) is a devastating disease caused by defective type VII collagen, a protein that is essential for a correct function of the skin and certain internal organs. Collagen proteins require critical processing steps in order to function correctly. We previously identified that in RDEB skin, an enzyme that performs a number of these critical processing steps, lysyl hydroxylase-3 (LH3), is deficient. This project pursued the idea that increasing the level of this enzyme in RDEB skin will improve fibrosis in RDEB patient skin. Our research shows that increasing the level of LH3 did not seem to have a dramatic effect on fibrosis in RDEB skin models in the laboratory and our work suggests that LH3 has a direct role in type VII collagen. Therefore in order to gain the full benefit of using LH3 as a therapy to treat RDEB we believe it has to be used alongside therapy to replace type VII collagen. We are actively working on how LH3 modifies type VII collagen and whether we can combine LH3 and type VII collagen for improved therapy in patients with RDEB.


Keywords

South
RDEB
COL7
LH3
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