Poliglucosan adult, body disease ... (Adult polyglucosan body disease) - Gen GBE1
The body disease poliglucosan adult is a disease that affects the nervous system. People with this disease have trouble walking due to a decreased sensation in your legs (peripheral neuropathy) and spasticity. Affected individuals usually manifest early signs and symptoms between the ages of 30 and 60 years. Damage to the nerves that control bladder function, a condition known as neurogenic bladder, makes these individuals suffer from a progressive difficulty controlling urine flow. In addition, about half of people with body disease adult poliglucosan manifest dementia.
This process is due to alterations in the gene sequence GBE1 (glucan (1,4-alpha-), branching enzyme 1), located on the short arm of chromosome 3 (3p12.3). This gene, encoding glycogen branching. This enzyme is involved in the last stage of the production of glycogen. Some of the glucose molecules that make up the glycogen are joined together in a straight line, while other branch of the main chain and side chains formed. The glycogen branching enzyme is involved in the formation of these side chains. The branched structure of glycogen makes it more compact for storage and allows to decompose more easily when needed as an energy source.
They found at least seven mutations in the gene in individuals with GBE1 body disease poliglucosan adult. A mutation appears to be more common in people affected with Ashkenazi Jewish ancestry. This mutation replaces the amino acid tyrosine by the amino acid serine at position 329 in the enzyme (Tyr329Ser or Y329S). Most of the mutations responsible for the development of this disease result in a deficiency of the enzyme. As a result, the glucógenotiene less side chains. These abnormal glycogen molecules, called poliglucosan bodies accumulate within cells and cause damage. Neurons appear to be particularly sensitive to the accumulation of bodies poliglucosan. Damage to neurons causes a decreased sensation, weakness, and other nervous system problems in those affected.
This disease 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 body disease poliglucosan adult, by complete PCR amplification of exons GBE1 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).