problem with my DNA in relation to skin adhesion

I only had a limited DNA saliva test . A problem came up related to the SNP known as rs2076295 (T;T) on chromosome 6p24, which encodes the protein desmoplakin (part of desmosome). Desmosome is an adhesive intercellar molecule that tightly links adjacent cells for cell-cell adhesion. It is part of a dynamic structure that involves other proteins, such as plakoglobin and plakophilins, which tether the cytoskeleton to the cell membrane.

Desmosomes (and desmoplakin) are important in maintaining the integrity of tissues that experience mechanical stress, and there is strong evidence that malformation of the desmosome disrupts epithelial homeostasis.

It is abnormal for me to have 2 copies of the risk allele (T), significant up-regulation of DSP expression in T;T. It also abnormal for me to have 1 copy of risk allele (T) of DSP expression in G;T.

"If the connecting adjacent epithelial cells of the skin are not functioning correctly, layers of the skin can pull apart and allow abnormal movements of fluid within the skin, resulting in blisters and other tissue damage. Blistering diseases such as Pemphigus vulgaris and Pemphigus foliaceus are autoimmune diseases in which auto-antibodies target the proteins desmoglein 3 and desmoglein 1 respectively. The symptoms of the diseases are caused by the subsequent disruption to the desmosome-keratin filament complex leading to a breakdown in cell adhesion. Similar outbreaks occur with Hailey–Hailey disease, though the cause is not autoimmune, but, rather genetic. A haploinsufficiency of the ATP2C1 gene located on chromosome 3, which encodes the protein hSPCA1, causes malformation of the desmosomes."

http://en.wikipedia.org/wiki/Desmosome


Hemidesmosomes are related to Desmosomes.

http://en.wikipedia.org/wiki/Hemidesmosome

Note: In a related disease called Hailey-Hailey disease, secondary bacterial or fungal infections are common. Some patients have found that outbreaks are triggered by certain foods, hormone cycles, and stress. It states that avoiding friction of affected area may help prevent flare ups.

I encourage others to get their DNA tested for this just to see if there is a connection. During my genetics counseling session, I will ask if there is any treatment. Tweet