Lipoprotein lipase deficiency is a malfunkction of a key enzyme for lipoprotein metabolism. Lipoprotein lipase deficiency can cause serious episodes of pancreatitis. The deficiency is caused by pathology in the LPL gene. There are many variants in the LPL gene and quite a lot of them are pathogenic.The first gene therapy in Europe was licensed for the treatment of lipoprotein lipase deficienciency using a gain-of-function variant of the LPL gene. A pattern of examination was established to including MLPA, Light SNiP, quantitative real time PCR and sequencing in order to find pacients for the treatment. Three pacients suitable for the gene therapy Alipogene tiparvovec (AAV1-LPL S447X) were found amongst a group of patients with history of pancreatitis.
| Identifer | oai:union.ndltd.org:nusl.cz/oai:invenio.nusl.cz:362446 |
| Date | January 2016 |
| Creators | Křížová, Jana |
| Source Sets | Czech ETDs |
| Language | Czech |
| Detected Language | English |
| Type | info:eu-repo/semantics/masterThesis |
| Rights | info:eu-repo/semantics/restrictedAccess |
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