Alström syndrome ... (Alström syndrome) - Gen ALMS1
Alström syndrome is a rare process that affects many body systems. Many of the signs and symptoms of est and process begin in infancy or early childhood, although some manifest themselves later in life. Alström syndrome is characterized by progressive loss of vision and hearing, dilated cardiomyopathy, obesity, diabetes mellitus type 2 and short stature. In addition, it can cause serious or potentially fatal medical problems involving the liver, kidneys, bladder and lungs. Some affected individuals may develop acanthosis nigricans, which makes the skin in body folds thicken, it darkens and aterciopel e. Signs and symptoms of Alström Syndrome can vary in severity, and not all affected individuals have all the characteristic features of the disease.
Alström syndrome is due to mutations in the ALMS1 gene located on the short arm of chromosome 2 (2p13). This gene encodes a protein whose function is unknown. It is believed that the protein may play a role in hearing, vision, body weight regulation, and function of the heart, kidneys, lungs and liver. It can also affect the way in which the pancreas regulates insulin. The ALMS1 protein is present in most tissues of the body, usually in low concentrations. Inside the cells, this protein is found in centrosomes, which play a role in cell division and in microtubule assembly carrying materials in cells and help the cell to maintain its shape. The ALMS1 protein is also found at the base of cilia, involved in cell movement and different chemical signaling pathways. Based on its location inside cells, it is likely that ALMS1 protein is involved in microtubule organization, transport of different materials, and normal function of cilia.
They have identified more than 80 mutations in the gene ALMS1 in people with Alström Syndrome. Most of these mutations result in an abnormally small encoding the protein ALMS1 not work properly. It is believed that the absence of functional protein in the brain could lead to a tendency to overeat. In addition, a loss of this protein in the pancreas can result in insulin resistance. The combined effects of overfeeding and insulin resistance reduces the body's ability to metabolise the excess sugar, leading to diabetes and obesity. Although it is unclear how mutations in the gene give rise to ALMS1 other signs and symptoms of Alström Syndrome is believed that the syndrome is associated with a malfunction of the cilia in many tissues and organs of the body.
Alström syndrome is inherited in an autosomal recessive pattern, which means that 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 Alström syndrome, by complete PCR amplification of exons ALMS1 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).