IgA nephropathy (IgAN) which is an autoimmune kidney disease has affected the lives of many people. Researchers came across genes that are linked to molecular defect in people associated with this disease. It is also known as Berger’s disease which is one of the reasons behind kidney failure.
These findings also find their place with other diseases having similar molecular defects like inflammatory bowel disease and certain types of blood disease and cancer. When immunoglobulin A (IgA) gets collected in the kidneys, then IgAN occurs. It causes inflammation of glomeruli which is the filtering unit of kidney. If it continues for longer duration, then kidney stops its function of filtering wastes from blood. It has been found that half of the patients with IgAN develop kidney failure. Cure for IgAN is not there but with medications and blood pressure control, progression of disease is slowed. Abnormal O – glycosylation of IgA antibodies is the molecular defect with IgAN people.
O – glycosylation is the process in which molecule of sugar attaches to an oxygen atom. This oxygen atom is found in the amino acid residue of a protein. It plays an important role in physiological processes of body. To identify reasons behind O – glycosylation of IgA, various studies have been conducted. These studies found that variations in two genes C1GALT1 and C1GALT1C1 were common in people with Galactose deficient – IgA1 marker. Studies are going on to find out gene interaction with environmental factors.