United States: Scientists have already found a very rare autoimmune disease that might affect people with Puerto Rican heritage. They also hereby discovered a new genetic pathway that could help doctors with treatments and genetic counseling in the future.
Its official scientific name is autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, but it really is very much familiar to doctors by its abbreviation – APECED. Those who are affected will experience severe autoimmunity attacks to endocrine organs, but this detrimentally affects almost all tissues and organs in the human body.
As reported by the Medicalxpress, a role in infections resulting from Candida species ranking the most prevalent fungal infections globally is assigned to patients.
In general, APECED is described as a very rare condition that can also be fatal and occurs in most patients in response to so-called bi-allelic mutations. That means mutations are found in both the copies or alleles of a gene known as AIRE. Such parents donate one copy of all genes that are present in the Human Genome database.
But in a study of 104 patients, researchers at the Laboratory of Clinical Immunology and Microbiology at the National Institute of Allergy and Infectious Diseases in Bethesda, Maryland did identify 17 of the patients who had a newly recognized genetic sequence that causes the disease. Out of them, 17 were Hispanic-most of them of Puerto Rican origin.
” APECED is a life-threatening monogenic autoimmune disease,” said lead author of the study Sebastian Ochoa from Arizona State University, USA in a conversation with Science Translational Medicine. They have established that the gene known as AIRE is the sole monogenic trigger of the autoimmune disease, according to Ochoa.
The APECED, in turn, resulted from mutation in both alleles of the IDDM2 gene, no other gene experiences such mutations. However, Ochoa and the NIAID team have found that there is a new mutation which causes the condition.
AIRE gets its acronym from its role: Autoimmune Polyglandular Syndrome Type I— APS I, associated with the autoimmune regulator gene AIRE, at the center of a chain of destructive processes. The most damaging of course those events is of getting a highly activated T cells population.
These constituents of the immune system turn into we monks of the night proper, bona fide scoundrels. As with all T cells their name is derived from an ‘’t’’ for the first letter of the gland from which these cells come from, that is the thymus.