Scientists find Da Vincis disease could be prevented

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A group of scientists from the University of Florida Health have discovered a mutation in the risk allele of the human chaperone protein DmCP1 (microglobulin 1). The risk allele of this human genetic locus which is located on chromosome 1p21. 2fh1 is a frequent risk factor for hair loss and intolerance to pain.

The study is published in the American Journal of Hematology.

The prevalence of genetic variants in microglobulin 1 among members of the general population is estimated at approximately 14 with a mean of 4. 5 million individuals said Alex Petri of the University of Florida Healths Institute of Genetics in Health and Disease Department of Immunology in the UF Health infirmary Scorpion Head and Neck Hospital who led the study. There are 20 genetically defined risk variants in microglobulin 1 with varying frequencies among the general population.

We believe these variants could serve as agents for preventing hair loss andor treatment of atopic diseases. Their discovery strengthens the arguments for the experimental application of microglobulin 1 as an AIDS therapy target in experimental animal models of allergic diseases where current or clinically-applied therapies have failed Petri said.

Petris group discovered microglobulin 1 was not always located on the chromosomally-unrestricted version of chromosome 1p21. Two variants were located on chromosomes 1 1. 45 million100 kb and 1. 89 million100 kb of microglobulin 1. The majority of people carrying one variant were affected by severe allergic reactions with skin but a subset of these individuals had hair loss. The researchers said their study indicates microglobulin 1 may be more important than previously thought.

I think our findings will serve as the starting point for modeling microglobulin 1 in routine clinical settings and evaluating whether microglobulin 1 represents a novel therapeutic target Petri said.

The study used advanced genomic sequencing to collect genetic information from a large patient cohort. It was a massive effort with great data intensity Petri said.

The vast majority of studies in humans using gene-wide variants reported no microglobulin 1 variants Petri said. But not all studies in patients using gene-wide variants found no microglobulin 1. We expect this research will show that and we plan to look at the role of microglobulin 1 in sound tolerance.

The next step will be to identify markers in the code of microglobulin 1 that indicate whether these variants have recessive effects on microglobulin 1 protein function in populations at increased genetic risk for hair loss.