Meleda, Mal ... (Mal Meleda) - Gen SLURP1.
Meleda evil is a rare disease of the skin that begins in early childhood. Affected individuals have palmoplantar keratoderma, it characterized in that the skin of the palms and soles of the feet becomes thick, hard and calloused. In the disease, thickening of the skin is also found in the back of the hands and feet, wrists and ankles. Some people have recurrent yeast infections in the thickened skin, which can lead to a strong odor. Other features of the disease may include brachydactyly, nail abnormalities, red skin around the mouth and hyperhidrosis.
Meleda sickness is caused by mutations in the gene SLURP1, located on the long arm of chromosome 8 (8q24.3). This gene encodes a protein that interacts with other proteins, and is likely to be involved in signaling within cells. Studies show that the protein can be attached Slurp -1 nicotinic acetylcholine receptors (nAChRs) in the skin. Through interaction with these receptors, it is believed that the protein is involved in controlling growth, proliferation, differentiation, and survival of skin cells.
They have identified at least 15 mutations in the gene cause bad SLURP1 Meleda. Mutations result in decreased or absent SLURP -1 protein in the body. It is unclear how the lack of this protein leads to skin problems that occur in the evil Meleda. It is believed that without the protein, activity controlled signaling nAChR gene is altered, leading to an overgrowth of skin cells or survival of cells that under normal conditions would have died. Excess cells may lead to a thickening of the skin. It is unclear why the skin of the hands and feet is particularly affected.
This disease is inherited in an autosomal recessive pattern, that is, both copies of the gene in every cell must have mutations for alteration is expressed. The parents of an individual with an autosomal recessive disease have a copy of the mutated gene, but usually show no signs and symptoms of the disease.
Tests in IVAMI: in IVAMI perform detection of mutations associated with evil Meleda, by complete PCR amplification of exons SLURP1 gene, and subsequent sequencing.
Samples recommended: EDTA blood collected for separation of blood leukocytes, or impregnated sample card with dried blood (IVAMI may mail the card to deposit the blood sample).