10. Molecular genetics of the βxosaminidase isoenzymes: An introduction

Abstract

Publisher Summary In this chapter, an introduction on the molecular genetics of the β-Hexosaminidase Isoenzymes is discussed. The chapter investigates the enzymatic hydrolysis of G M2 ganglioside by various tissues using a radioactively labeled substrate prepared by in vivo labeling. A quarter-century has elapsed from recognition of the enzyme deficiency in Tay-Sachs disease (TSD) to the engineering of an animal knockout for this disease. Progress in our understanding of the molecular causes of TSD and other variants of G M2 gangliosidosis has closely paralleled the development of techniques for cloning genes and detecting mutations. Direct benefits continue to accrue to patients and their families in more accurate diagnoses, carrier detection, and prenatal diagnoses. The chapter discusses the numerous challenges that lie ahead, especially in the application of this knowledge to the prevention and treatment of these diseases.