Role of Caspase 8 6N Deletion/Insertion in Chronic Myeloid Leukemia

Chronic myeloid leukaemia (CML) is a type of cancer that affects the blood and bone marrow. Most people diagnosed with CML have a genetic abnormality in their blood cells called the Philadelphia (Ph) chromosome. The Ph-chromosome causes the production of an enzyme called tyrosine kinase which leads to CML Caspase 8 gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes composed of a prodomain, a large protease subunit, and a small protease subunit. Activation of caspases requires proteolytic processing at conserved internal aspartic residues to generate a heterodimeric enzyme consisting of the large and small subunits. This protein is involved in the programmed cell death induced by Fas and various apoptotic stimuli. The N-terminal FADD-like death effector domain of this protein suggests that it may interact with Fas-interacting protein FADD This study comprises of 50 CML cases from Nizam’s institute of medical sciences, Hyderabad and 50 age and sex matched controls from the local population. DNA was isolated from blood samples collected from both the groups and genotyping was done by Bi-directional PCR Allele-Specific amplification (bi-PASA) using Sequence Specific Primers