Arterial tortuosity syndrome ... (Arterial tortuosity syndrome) - Gen SLC2A10
Syndrome arterial tortuosity is a process that affects the connective tissue characterized by abnormal blood vessels, particularly tortuosity of arteries, although other abnormalities such as stenosis, aneurysm and telangiectasia can occur.
Complications resulting from abnormalities in abnormal arteries can be potentially fatal. Rupture or dissection of an aneurysm may cause massive blood loss circulatory system. Obstruction of blood flow to vital organs such as the heart, lungs or brain can cause heart problems, respiratory problems and stroke. Stenosis of the arteries forces the heart to work harder to pump blood and can cause heart failure. As a result of these complications, arterial tortuosity syndrome is often fatal in infancy, although some individuals with mild cases of the disease live to adulthood.
Additional features of the syndrome are caused by abnormalities in the connective tissue elsewhere in the body. These features include joint deformities (hypermobility, contractures), skin unusually elastic arachnodactyly, scoliosis, pectus excavatum or carinatum, hernias, elongation of the intestines and diverticula in the intestinal walls. Often people with arterial tortuosity syndrome appear older and have distinctive facial features, including a long, narrow face with sagging cheeks; blepharophimosis, palpebral fissures down, high palate, micrognathia and large ears. In addition, the cornea can be cone shaped and abnormally thin.
Arterial tortuosity syndrome is due to genetic alterations involving the SLC2A10 gene (solute carrier family 2 member 10), located on the long arm of chromosome 20 (20q13.1), which encodes the protein GLUT10. This GLUT10 protein is classified as a glucose transporter; protein such transports glucose across cell membranes and helps maintain proper glucose concentrations in cells. However, GLUT10 has some structural differences compared to other glucose transporters, and its role in the transport of glucose or other substances is unclear. GLUT10 concentration appears to be involved in the regulation of the signaling pathway of transforming growth factor beta (TGF-?). This pathway is involved in the growth, proliferation and cell differentiation. Signaling pathway TGF-? of is also involved in bone development and blood vessels and the formation of extracellular matrix. It is believed that GLUT10 may also be involved in the functioning of mitochondria.
Ientificado have at least 23 SLC2A10 gene mutations in people with arterial tortuosity syndrome. Mutations responsible reduce or eliminate the function of GLUT10. By mechanisms that are unclear, a deficiency of functional GLUT10 protein leads to hyperactivity of the TGF-?, interfering with proper formation of connective tissues in the body, leading to anomalies characteristics syndrome . In addition, changes in mitochondrial function related to GLUT10 deficiency can also affect the development of the cardiovascular system, but the relationship between mitochondrial function and specific signs and symptoms of arterial tortuosity syndrome is unclear.
This process is inherited as 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 arterial tortuosity syndrome, by complete PCR amplification of the exons of the SLC2A10 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).