It has bugged researchers for long to detect the cause of blindness-inducing neurodegenerative diseases such as age-related macular degeneration (AMD) and retinitis pigmentosa (RP).
The only thing known was that they are genetic, but the problem was that AMD and RP belong to a complex family of disorders and further there are many forms of that disorder encoded by a distinct genetic form.University of Wisconsin-Madison researchers worked with fruit flies and discovered a common gene, calnexin that causes the degenerative disease.
Calnexin-found in both fruit flies and humans-functions as a cellular chaperone. It makes sure that proteins "fold” properlyand reach the destination cell. Modulating calcium levels, which is critical for proper vision, is also its function.
"Understanding the basic mechanisms of how proteins are folded holds the key to finding treatments for not only retinal degenerative diseases but also other neurodegenerative diseases such as Alzheimer's, Huntington's and Parkinson's.", was the researchers statement to say that future work would now become easier.
To detect the calnexin mutation, the UW-Madison team used genetic mapping to zero in on the exact region harbouring the mutant. "The more mutations we identify the easier it will be to step back and look at the big picture of the general principles of neurodegeneration.” was what the researcher had to say.
