Molecular diagnostics of transmissible spongiform encephalopathies

• Published in: Trends in Molecular Medicine Vol. 8; no. 6; pp. 273 - 280
• Main Authors: Ingrosso, Loredana, Vetrugno, Vito, Cardone, Franco, Pocchiari, Maurizio
• Format: Book Review Journal Article
• Language: English
• Published: England Elsevier Ltd 01-06-2002
• Subjects: 14-3-3 proteins; Animals; Biomarkers - analysis; Creutzfeldt-Jakob disease; diagnostic criteria; Genetic Markers; Humans; molecular diagnosis; Molecular Diagnostic Techniques - methods; prion diseases; Prion Diseases - diagnosis; Prion Diseases - genetics; Prion Diseases - metabolism; Prion Diseases - pathology; PrP; PrPSc Proteins - analysis; PrPSc Proteins - metabolism; Transmissible spongiform encephalopathies; 14-3-3 proteins; diagnostic criteria; prion diseases; Creutzfeldt-Jakob disease; Neurobiology; Molecular Medicine; Transmissible spongiform encephalopathies; molecular diagnosis; PrP
• ISSN: 1471-4914; 1471-499X
• DOI: 10.1016/S1471-4914(02)02358-4

Clinical criteria for the diagnosis of sporadic, iatrogenic and variant Creutzfeldt–Jakob diseases are now available and show an excellent sensitivity and specificity (∼98%). Post-mortem diagnosis, based upon the identification in the brain of the pathological conformer of the prion protein (PrP
Sc), is also very accurate, and several diagnostic kits are now available that facilitate the immunochemical measurement of PrP
Sc. Several new molecular diagnostic techniques aimed at increasing the sensitivity and specificity of PrP
Sc detection, and at identifying markers of disease that are other than PrP
Sc, are the subject of ongoing studies. The aim of these studies is to develop preclinical screening tests for the identification of infected, but still healthy, individuals. These tests are also badly needed to check the safety of blood or blood-derived products, and to ensure meat safety in European countries.
Enormous efforts are under way to develop pre-clinical diagnostic tests for the identification of prion-infected, but still healthy, individuals. Such tests are also urgently needed to test blood and blood-derived products and to ensure meat safety.