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Molecular Pathology of Acute Intermittent Porphyria
 Hrdinka, Matouš
Molecular Pathology of Acute Intermittent Porphyria Author: Matouš Hrdinka Acute intermittent porphyria (AIP) is autosomal dominant disorder caused by the partial deficiency of porphobilinogen deaminase (PBGD), the third enzyme in the heme biosynthetic pathway. AIP is manifested by life-threatening acute neurological attacks that can be provoked by various factors such as drugs or alcohol. Objective of this study was to identify and characterize the molecular lesions in Czech and Slovak AIP patients. To identify disease-causing mutations screening was performed by PCR, denaturing gradient gel electrophoresis (DGGE), automated DNA sequencing and restriction fragment lenght polymorphism (RFLP) assays. Total of 35 individuals from 8 families were analyzed to detect asymptomatic carriers. Seven mutations were identified, including 3 novel mutations. Of particular interest, one patient had two mutations R173Q and Q204K, both located in exon 10 on the same allele. To further characterize these mutations, human PBGD was cloned into the pGEX-4T-1 vector and mutations were generated by site-directed mutagenesis. The wild-type and mutated enzyme species were expressed in E. coli as GST fusions and purified by affinity chromatography. Conditions of the PBGD enzyme assay were determined and specific...
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