Aceruloplasminemia syndrome ... (aceruloplasminemia Syndrome) - Gen CP
Aceruloplasminemia syndrome is an alteration in iron accumulates gradually in the brain and other organs. Iron accumulation in the brain causes progressive neurological problems that usually appear in adulthood. These individuals may develop a variety of problems related to movement, such as dystonia head and neck, tremor, chorea, eyelid spasms (blepharospasm) and face. In addition, these individuals may exhibit ataxia. Some develop psychiatric problems and dementia in the forties or fifties. In addition to neurological problems, affected individuals may have diabetes mellitus due to damage caused iron to cells in the pancreas that produce insulin. Iron accumulation in the pancreas reduces the ability of cells to produce insulin, which affects the regulation of blood glucose, and leads to signs and symptoms of diabetes. Iron accumulation in the tissues and organs leads to a deficiency of iron in the blood, resulting in anemia. Anemia and diabetes usually occur around 20 years old. Affected individuals also have changes in the retina, as small opaque spots and areas of atrophy in the margins of the retina. These abnormalities not usually affect vision, but can be observed during an eye examination.
This process is due to mutations in the CP gene, located on the long arm of chromosome 3 (3q23-q25). This gene encodes a protein called ceruloplasmin, which is involved in the transport and processing of iron. Ceruloplasmin helps transport iron from body organs and tissues, and prepares for joining transferrin transports it to erythrocytes, where they participate in oxygen transport. There are two ways ceruloplasmin, a form of serum ceruloplasmin, circulating, which occurs primarily in the liver, which is involved in iron transport in most of the body, but is unable to penetrate the brain. The other form of ceruloplasmin, called glycosylphosphatidylinositol (GPI) is fixed, important for the processing of iron in the brain form. This form of ceruloplasmin occurs in glial cells, which protect and maintain neurons.
They described approximately 40 mutations in the CP gene in people with aceruloplasminemia. These mutations result in the synthesis of an unstable or non - functional protein, or prevent the protein is released by the cells in which it is synthesized. When there is no available ceruloplasmin, iron transport of body tissues deteriorates. Iron buildup damages the cells in those tissues, leading to neurological dysfunction and other health problems.
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 aceruloplasminemia, by complete PCR amplification of the exons of the CP 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).