Written by: Hailey Rudman
Composed of trillions of cells and three main layers, the human skin has a variety of functions. The intricate network of tightly knit cells provides a barrier against harmful substances that reside outside the human body and act as a guard, preventing foreign substances from invading. However, a single base change in a gene that codes for proteins functioning with the integumentary system may drastically hinder the skin’s ability to protect and regulate. As medical technology has advanced, professionals can understand skin diseases by sequencing genomes and finding genetic patterns that correlate with specific disorders.
In order to understand what truly causes a skin disorder known to be inherited, geneticists pay attention to the specific gene(s) that may be the underlying cause. Because the human genome is so complex, we have yet to understand what gene has the capability of causing which disorder. Diseases of the skin are typically caused by point mutations which cause a change in a single base of a gene. Point mutations can be quite dangerous as they can affect the formation of a protein, which is generally why disorders arise. The genetic sequence holds instructions for how proteins will form and function. Larger issues may arise if there is even a small alteration to genetic sequencing, for proteins will form either incorrectly(point mutation) or simply not at all(nonsense mutation). Some genetic mutations are referred to as “silent mutations” because a base is being altered in a way that does not affect protein formation. However, this is typically not the case with skin diseases, unfortunately. Genetic diseases generally fall into two different categories: recessive and dominant disorders. Yet, these categories are not meant to be seen as “black and white” because, within each one, there are exceptions and other factors. For example, disorders can show incomplete dominance or epistasis which can affect how the phenotype is expressed in an individual. This is also part of why studying and understanding genetic skin disorders can be difficult.
Albinism is an autosomal recessive disorder that reduces the amount of melanin pigment in the skin, hair, and eyes. Individuals who inherit this disorder are typically characterized as having extremely fair skin, light eyes (pink or blue), and white hair. Albinos are very sensitive to sunlight due to the lack of melanin, a pigment that protects the skin from UV radiation. Albinism is caused by a mutation in the TYR gene which is responsible for the synthesis of melanin pigment. With that gene mutated, melanin is no longer being produced which is directly responsible for the fair skin seen in those with the disorder.
Furthermore, in an individual with Hailey-Hailey disease, cellular adhesion between their epidermal cells is lost. This is due to a faulty ATP2C1 gene which holds the responsibility of encoding the calcium pump, which moves calcium in and out of the cell. Calcium is important as it helps maintain the health of the barrier property of the skin. Phenotypic or the visible effects can be seen as blisters and erosions on the surface of the skin.
Although genes may seem to play a major role in skin disorders, they do not hold all responsibility. Other factors such as an individual’s hormones, surrounding environment, and sun exposure may cause certain conditions to arise. It is important that individuals pay attention to keeping their skin healthy in order to best prevent adverse situations. However, the field of genetics remains largely undiscovered and future findings may hold the key to curing many diseases that ravage the skin.
Image Source: Nature
References:
“What is Albinism?” DNA Learning Center, https://dnalc.cshl.edu/view/15932-Whatis#:~:text=The%20enzyme%20produced%20by%20the,heir%20eyes%2C%20skin%20or%20hair
“Are Skin Conditions Genetic?” Olansky Dermatology, May 2022, https://www.olanskydermatology.com/blog/are-skin-conditions-genetic/#:~:text=Skin%20conditions%20develop%20for%20a,a%20confirmed%20correlation%20with%20genetics.
“Genetic Diseases that Affect Skin.” Penn Medicine Dermatology, https://dermatology.upenn.edu/clinical-programs/genetic-disease/
DeStefano, Gina M, and Angela M Christiano. “The genetics of human skin disease.” Cold Spring Harbor perspectives in medicine vol. 4,10 a015172. 1 Oct. 2014,
doi:10.1101/cshperspect.a015172
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