One of the most common group of genetic disorders is Albinism and it is known to affect both skin and eyes in humans. Intensive study in the field has identified some of the genes that cause the condition, however most are yet unknown.
Based on a team of researchers of UC Davis, several of the genetic mutations have been identified with regards to a screen of gene-targeted ‘knockout’ mice. According to experts, the findings will help clinicians to study the genetic cause for the condition.
Furthermore, the scientists elaborate that nerve tissue, eyes and skin are all interconnected because they all develop from the early embryonic tissue. The research also touches upon a similar skin disorder like albinism, called phakomatoses, which is caused either due to hereditary genetic alternations, originating from parents, or from those that occur by accident due to embryo development.
Among albino people, the degree of pigment loss varies, they usually lack pigment in eyes, skin and also in hair. The difference in pigment loss depends mostly on the genetic change.
The research team at UC Davis Veterinary Medical Teaching Hospital, in collaboration with an international team examined the database for knockout mice, which was created by International Mouse Phenotyping Consortium (IMPC), especially for animals with pigmentation abnormalities in skin and hair. The result included a list of 52 genes that affected both eye and skin organ systems, out of which 35 were newly discovered. Moreover, experts believed a majority of these genes could cause similar problems among humans.
The IMPC especially works towards creating mice on basis of targeted deletions of single gene, in addition to examining the effects. According to reports, the body has till now produced knockout mice for roughly 6000 genes, out of which, more than 5000 have been phenotyped and characterized across 11 body systems.
The identification of mouse related genes to a specific disorder can help in determining equivalent genes in humans. In comparison it is easy to do sequencing for an entire human genome in 2019, however examining the genetic change for a specific disease is much complicated, as humans vary genetically.
Experts believe, laboratory mice make it easier to link traits to a single genetic change, as they are inbred on a consistent genetic background. Based on candidate genes from mice, clinicians could focus on specific genes among human patients.