Credit Seminar on Molecular Basis of Down Syndrome in Relation to DYRK1A Gene

Of the innumerable things that can go askew with pregnancy, Down syndrome (DS) is perhaps the best known condition that has posed serious challenge to cellular and molecular research for more than 50 years since the time of its discovery. Down syndrome is the most common chromosomal disorder caused by the partial or complete trisomy of chromosome 21, giving rise to a total of 47 chromosomes rather than the normal 46. The presence of an extra chromosome and the genes in a specific region on it, called the ‘Down syndrome critical region’ (DSCR), cause various defective phenotypes including cognitive impairment and neuropathological alterations that are similar to those observed in Alzheimer’s disease. However, the molecular mechanisms of DS developmental abnormalities, mental retardation and early onset of Alzheimer-type pathology have been remaining elusive. Recently many studies have indicated that over expression of a gene located on the DSCR, namely the Dual-specificity tyrosine phosphorylation regulated kinase 1A (DYRK1A) may play a significant role in developmental brain defects and in early onset neurodegeneration, neuronal loss and Alzheimer-type pathology seen in DS. DYRK1A is the member of an emerging family of evolutionarily conserved dual-specificity kinases that has important roles in multiple biological functions such as cell proliferation, survival, and development. Regulated DYRK1A expression is one of the key components in neuron development, maturation and aging. Studies using transgenic mice have shown that dosage imbalance of DYRK1A challenges the proper development and functioning of neurons and brain cells through various downstream mechanisms. By understanding the functional and physiological roles of DYRK1A, it may be possible to take a first step in understanding an important molecular basis of DS pathology. This may also help to develop of possible therapeutics targeting the inhibition of excessive DYRK1A activity in order to alleviate neuropathological defects in DS patients. 

Name: Amudhavaani II Year
Reg. No: 1741110032
Guide Name: Dr.M. Parani
Date: 27.09.12
Time: 3.10 PM
Venue: 701(B)