Genetic testing for pemphigus disease

Pemphigus is a rare autoimmune disease that affects the skin and mucous membranes (the mouth, throat, eyes, and genitals). Symptoms include blisters in the folds of the skin such as the groin, underarms, neck and under the breasts.

The infected areas may become scaly, irritated, and inflamed. Skin irritation tends to worsen with exposure to moisture (sweat), friction, and hot weather. There are several forms of pemphigus, some may be fatal without treatment. It is unknown what triggers the disorder, and it seems to have a genetic base. When a genetic tendency for pemphigus exists, environmental factors can trigger the condition.

Pemphigus is an autosomal dominant disease, which means that one copy of the defected gene from one of the parents can cause the disease to develop.

Only a third of people with this disorder have a family medical history of pemphigus. The dominant inherent nature of the disease creates a 50:50 chance that a child of a parent with pemphigus will inherit this skin condition. If both parents have the condition, their child’s chances of developing the condition increase. Since pemphigus is a genetic disorder, there is no specific cure. Treatment includes antibiotics, anti-fungal drugs and anti-viral drugs to control infections, and cold compression therapy.

Causes and diagnosis

Our immune system creates antibodies that attack viruses and infections to maintain our health. In pemphigus disease, the immune system mistakenly attacks the epidermis cells (the top layer of the skin) and the mucous membranes.

The immune system creates antibodies against proteins in the skin that hold skin cells intact and healthy. When these proteins are attacked by the immune system, skin cells become separated, and fluid can collect between the layers and create blisters. In some cases, these blisters can cover wide areas of the skin.

Diagnosing pemphigus disease includes several stages. First, a doctor will visually examine the blisters, ask about medical history, and perform a physical examination. Next, biopsies are sampled from the blisters and examined under the microscope. In addition, the lab uses chemical compounds to search for the antibodies responsible for the disease. Pemphigus is considered a severe disease and it should be diagnosed efficiently through the appropriate tests. Early diagnosis can help make treatment more effective and ease the symptoms.

Affected populations and genetic changes

Pemphigus disease affects people regardless of ethnic descent. However, research has shown that certain ethnic groups are more prone to this condition, such as people of Eastern European (Ashkenazi) Jewish descent and Middle Eastern descent. A certain type of pemphigus is more prone among people from certain areas of the Brazilian rainforests. Men and women are equally affected, but the onset age is often around 40-60 (middle-aged people). It is agreed that the disease has a genetic basis, which makes genetic testing for early diagnosis and prevention highly important.

The gene mutation related to pemphigus is in the ATP2C1 gene. This gene provides instructions for creating the protein hSPCA1 that can be found in many cells. This protein helps cells accumulate calcium necessary for regulating cell division and adhesion (the attachment of cells to each other). The protein is important to the function of keratinocytes (a type of cell in the epidermis). The mutation in the ATP2C1 gene reduces the amount of functional protein in the cells which leads to their inability to store calcium. The disease follows a dominant autosomal inheritance pattern, which means that one copy of the affected gene in each cell is enough to cause the disorder. 

Skip to content