The role of emerging techniques in the investigation of prolidase deficiency: From diagnosis to the development of a possible therapeutical approach

• Published in: Journal of chromatography. B, Analytical technologies in the biomedical and life sciences Analytical technologies in the biomedical and life sciences, 2006-02, Vol.832 (1), p.1-8
• Main Authors: Viglio, Simona, Annovazzi, Laura, Conti, Bice, Genta, Ida, Perugini, Paola, Zanone, Chiara, Casado, Begoña, Cetta, Giuseppe, Iadarola, Paolo
• Format: Article
• Language: English
• Subjects: Analysis; Analytical, structural and metabolic biochemistry; Biological and medical sciences; Capillary electrophoresis; Diagnosis; Dipeptidases - deficiency; Electrophoresis, Capillary; Fundamental and applied biological sciences. Psychology; General pharmacology; Genes, Recessive; Genetic Diseases, Inborn - diagnosis; Genetic Diseases, Inborn - genetics; Genetic Diseases, Inborn - therapy; Humans; Imidodipeptides; Liposomes; Medical sciences; Pharmacology. Drug treatments; Prolidase deficiency; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization; Urine
• ISSN: 1570-0232; 1873-376X
• DOI: 10.1016/j.jchromb.2005.12.049

The aim of the present article is to review the efforts performed in the past two decades by numerous research groups for the development of methods that allow a correct diagnosis of prolidase deficiency (PD), a rare autosomal recessive disorder and for the rationalization of a possible therapeutic intervention on these patients. In particular, the interest of the reader is focused on the application of capillary electrophoresis (i) for the detection of biological markers that reflect the pathological feature of the disease and (ii) for the determination of the efficiency of a carrier system in delivering prolidase inside cells in a possible therapy based on enzyme replacement.