IMG_9720
This young lady is affected by EEC syndrome.

Corneal abnormalities are a major clinical issue encountered by patients affected by ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome. EEC is caused by dominant mutations in the p63 gene, meaning that EEC patients have one copy of the normal p63 gene and one copy of the mutant p63 gene.

It has been suspected that removing the mutant p63 gene, leaving behind the normal p63 gene, would be sufficient for cells to function normally. The Di Iorio research team in Italy has now experimentally tested this.

They have generated an siRNA that is specific for one of the p63 mutations found in EEC patients, namely the p63-R279H mutation. An siRNA functions by destroying RNA (the product of a gene). In this case, the siRNA will specifically destroy the mutant p63, RNA but will leave the normal p63 RNA intact.

In their recent work, the Di Iorio group has isolated stem cells from the oral mucosa of patients that carry the p63-R279H mutation.  Their cell culture studies show that normal stem cell functions are restored in cells treated with the siRNA.

These exciting results provide a foundation for further research aimed at translating these findings to the clinic.

Two therapies envisioned by the Di Iorio group are to

  1. treat patient corneas with the siRNA or
  2. treat oral mucosa cells with the siRNA, and then direct them to form cornea cells for transplantation.

This is exciting research that may ultimately lead to a treatment for corneal erosions in EEC patients!

Other posts you may be interested in:

One comment on “A Treatment for Corneal Erosions in EEC?”

  1. 1
    Ectodermal Dysplasia Didn’t Hold Back These 2016 Graduates | National Foundation for Ectodermal Dysplasias on June 7, 2016

    […] A Treatment for Corneal Erosions in EEC? […]

Leave a Reply

Your email address will not be published.