Knockout mice are guide to new genes for eye and skin disorders

The article, “Knockout mice are guide to new genes for eye and skin disorders”, discusses the role mice play in discoveries about humans concerning certain disorders. There is a lot of information known about albinism. Albinism is a disorder that affects the pigment of hair, skin, and eyes. It can vary from extreme to mild. Scientists have been able to connect a lot of genes to 

Above is an image that depicts the difference between a transgenic mouse and a knock-out mouse (https://www.jidsponline.org/article/S0022-202X(15)52560-8/fulltext)

the disorder, however there is still a lot unknown. At UC Davis, researchers have used mice to target certain disorders genetically. They use “knock-out mice” in which an existing gene is inactivated to learn more about its function. 

Albinism in humans is just starting to be understood. However, it is very hard to look at the genetics of humans. We can easily sequence a genome, but it is harder to figure out the tie between a gene and a disorder. Luckily, through the mice, we are able to do this much more easily. Mice are not as variable, so it is easier to find the connections. While humans are not mice, through the discoveries in mice, it makes it considerably easier to find the target genes in humans. It allows us to focus on more specific genes which is a lot less daunting than the whole genome. 

There has been success in using these knock-out mice. The article, “300 blind mice uncover genetic causes of eye disease”, explains how genes linked to vision disorders have been identified. Three quarters of these had been previously unknown. Through finding the analogous genes in humans, we will be able to locate the cause for blindness genetically with much more ease. 

The reason mice are a prime candidate for the study as well as many other studies is because their genetic background has become so consistent in a laboratory setting. This creates a pretty reliable control and leaves less room for variables and discrepancy. 

Once these genes for disorders are pinpointed in mice, the knowledge can be applied to humans. I think it is amazing how all living organisms, that we know of, are based on the same genetic code. Through this, it allows us to make discoveries into our own species through research on the genetics of another. Having more insight into these hair, eye, and skin disorders will have all sorts of positive consequences. Scientists will be able to understand certain ailments and be better equipped to treat them. 

Gene Therapy Saves Lives

In recent news, an article posted on New Scientist explains a gene therapy procedure that saved the life of a young Syrian boy suffering from a severe skin condition. The gene therapy corrected a genetic mutation responsible for the painful and dangerous skin-blistering disease. The condition is known as Epidermolysis bullosa. The condition is extremely rare. It causes sores by the slightest bit of contact with skin. The life expectancy of people with the mutation is rather short lived because of the complications associated with the sores.
What could cause such a agonizing disease? Genetic mutations. The mutation of the gene forces the surface skin layer away from the underlying layer, resulting in the painful skin sores. Michele DeLuca, of the University of Modena, was able to use gene therapy to save a child that was suffering so severely. At the age of seven, the patient was admitted to a hospital due to an infection that resulted in loss of most of his skin. DeLuca, with help from a team of experts, removed a patch of skin from the patient and genetically modified the cells which provided a correction of the mutation. "They then grew the cells into sheets of skin, which were grafted onto the boy’s body, covering around 80 per cent of him" (Nature, DOI: 10.1038/nature24487). Now, at the age of nine, the boy is able to carry on with a normal and healthy life.
I think this is an absolutely amazing find. This poor young boy was living his life in such pain and misery. To have a small portion of skin genetically modified, resulting in a corrected genetic mutation is ground breaking in my eyes. Science is advancing so quickly, more and more cures for diseases are bound to surface eventually. It's so exciting to see what medicine of the future has in store for the world.

First Study to Identify Genetic Links to Rosacea

Researchers from Stanford University and 23andMe conducted a study on the incurable skin disorder known as rosacea.  The researchers hoped that the study would help them understand the genetics of rosacea better.  22,000 23andMe customers volunteered to participate in the first part of the study.  2,600 volunteers reported that they had been diagnosed with rosacea.  The remaining 19,400 volunteers who were not affected by the skin disorder were used as controls.  29,000 23andMe customers consented to take part in the second part of the study in which the researchers validated the findings from the first part of the study.  3,000 volunteers were affected by rosacea.  The remaining 26,000 volunteers were used as controls.

            The scientists were able to identify two genetic variants (single nucleotide polymorphisms) associated with the skin disorder.  After collecting skin biopsies from six of the volunteers affected by rosacea, the scientists discovered that the genetic variants found were in or near genes that are associated with diseases such as diabetes and celiac disease.

            I found this study fascinating.  I think this study was successful in helping scientists better understand the genetics of rosacea.  I think it opened possibilities for future studies in which scientists will make an effort to further understand the two genes that were found to be associated with rosacea, diabetes, and celiac disease.

Gene Mutation For Skin hyperproliferation

According to Science Daily, a scientist from A*STAR’s intuition of Medical Biology (IMB), identified gene mutation that cause a skin disorder called skin hyper proliferation.  Scientists called this rare skin disorder “The Tree Man” because somewhat it looks like a bark of the tree. Skin hyper proliferation causes profuse patches on skin of soles and palm. However, this disorder was found very rare among people who live on Indonesian. Gradually, these patches will escalated as person age and frequently unite in larger scratches. Researchers called this skin disorder as “Punctate palmoplantar kertoderma” because it effect on gene AAGAB. Punctate PPK is very rare autosomal dominant cutaneous disorder affected by extreme formation of keratin on the skin of palm and soles.

            By analysis the DNA from 18 different families, researchers found that gene AAGAB encode a protein P34 which had a characteristic to control the cell division on skin. Reduction on AAGAB gene tends to defect on p34 protein which caused to intensified cell proliferation on the epidermis. Due to the higher growth signals of epidermis growth factor receptor, it distracted feature of abnormal cell proliferation and PPK may start to form hyperprofileration.  However, researchers said that, finding of EGFR is a trademark of skin cancer and it is a fragment of the hyper proliferation of scratches in PPK patients. I hope reseraches would find better treatment or gene therapy to cure this disorder, because it is very painful for peopel who had this diorder while they walk or use their hand.