Polycystic liver, disease ... (Polycystic liver disease) - Genes PRKCSH and Sec63.
Polycystic liver disease, is a disorder characterized by overgrowth of biliary epithelium and surrounding connective tissue, generating multiple hepatic cysts, producing symptoms growth and mass effect.
This disease affects women more often than men. Cysts usually appear after 40 years of age and are not usually detected before. Their number and size increases with age. Symptoms depend on the mass effect (compression) and may include bloating, gastroesophageal reflux, early satiety, dyspnea, decreased mobility and low back pain due to hepatomegaly, but some patients may be asymptomatic. Other complications (infection or bleeding intracystic, twisting or breakage of cysts) can cause severe abdominal pain. Extrahepatic manifestations are rare and may include (usually small and with little risk of breakage) intracranial aneurysms and mitral valve abnormalities. Rarely, hepatomegaly can lead to malnutrition
Most cases of disease are caused by mutations in the gene or PRKCSH Sec63 gene. In other cases there may be other as yet unidentified genes.
The PRKCSH gene located on the short arm (p) of chromosome 19 (19p13.2), encoding the beta subunit of glucosidase II, an enzyme processing of N-linked glycan in the endoplasmic reticulum. The encoded protein is a phosphoprotein acid known to be a substrate for protein kinase C.
The Sec63 gene, located on the long (q) arm of chromosome 6 (6q21), encoding the Sec61 complex, which corresponds to the central system component translocation of membrane proteins of the endoplasmic reticulum (ER). The protein encoded by this gene and the Sec62 protein were found associated with the ribosomal complex SEC61-free ribosome. It is speculated that Sec61-Sec62-Sec63 translocation can perform protein after synthesis in the endoplasmic reticulum. The Sec61-Sec62-Sec63 complex can also perform retrograde transport of proteins from the endoplasmic reticulum when are intended to be degraded by ubiquitin-dependent proteasome pathway.
Liver disease is polycystic autosomal dominant inheritance, which means that a copy of the altered gene in each cell is sufficient to cause disease.
Tests in IVAMI: IVAMI performed in detecting mutations associated with disease Polycystic liver disease, by complete PCR amplification of the exons of the genes and Sec63 PRKCSH respectively 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).