The role of emerging techniques in the investigation of prolidase deficiency: from diagnosis to the development of a possible therapeutical approach.
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.
Viglio
Simona
S
Department of Biochemistry A. Castellani, University of Pavia, Via Taramelli 3/B I-27100 Pavia, Italy.
Annovazzi
Laura
L
Conti
Bice
B
Genta
Ida
I
Perugini
Paola
P
Zanone
Chiara
C
Casado
Begoña
B
Cetta
Giuseppe
G
Iadarola
Paolo
P
D004150:Dipeptidases / Q000172:deficiency*; D019075:Electrophoresis, Capillary; D005808:Genes, Recessive; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D006801:Humans; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
D004150:Dipeptidases; C022449:proline dipeptidase