London, Aug 10 (ANI): A new genetic cause of the blinding eye disease retinitis pigmentosa (RP) has been found, and in the process an entirely new version of the message that codes for the affected protein was discovered.
University of Iowa researchers suggest that the mutation may be a significant cause of RP in people of Jewish descent.
The findings also lay the groundwork for developing prevention and treatment for this form of RP using a combination of genetic testing, gene therapy and cell replacement approaches.
Using the latest DNA sequencing techniques to analyse the protein-coding regions of a single RP patient's genome, the researchers found a mutation in a gene called MAK (male germ cell associated kinase).
This gene had not previously been associated with eye disease in humans. However, examining tissue from donated eyes showed that MAK protein was located in the parts of the retina that are affected by the disease.
The researchers then generated induced pluripotent stem cells (iPSCs) from the patient's own skin cells and coaxed these immature cells to develop into retinal tissue.
Analysing this tissue showed that the gene mutation caused the loss of the MAK protein in the retina.
"These new technologies have greatly enhanced our ability to find and validate disease-causing mutations, which is critical to our ability to progress to the next step of actually treating diseases like RP," Budd Tucker, Ph.D., UI assistant professor of ophthalmology and visual science and lead study author, said.
The team also found that the MAK mutation, which involves an insertion of a large piece of DNA into the MAK gene, disrupts the gene in such a way that retinal cells lose the ability to make the longer version of MAK protein.
Based on the new work, the UI team hopes to explore gene therapy and cell replacement strategies as potential therapies for this form of RP.
The findings were published online August 8 in the Proceedings of the National Academy of Sciences (PNAS) Early Edition. (ANI)
|
|
Comments:
