Charla Investigadora Invitada: Mousumi Mutsuddi


Research interests of Mousumi Mutsuddi


Genetic Basis of Ocular disorders


We are interested in identification of rare variants causing ocular diseases. Our       aim is to identify novel causative, both rare and common variants in families affected with hereditary ocular disease, specifically from North Indian population encompassing Eastern Uttar Pradesh and Western Bihar.  Primarily targeted and Whole Exome Sequencing is being done. This will help us in better diagnosis and prevention of the disease of patients from Bihar and Uttar Pradesh. So far 15 families with congenital have been recruited with Cone Rod dystrophy, Macular Degeneration, Juvenile Cataract, Nystagmus, Retinoschisis, RP etc. We have identified a novel mutation in a family with Nystagmus in FRMD7 gene, p.M186V which by protein modeling is predicted to prevent interaction between Ferm-M and Ferm-C domains. We also have identified several candidate causal variants by Exome sequencing of patients with Cone Rod Dystrophy like CDHR1, DYSF etc. (Gupta S, et al., Neurosci Lett. 2015 Jun 15;597:170-5. doi: 10.1016/j.neulet. & Gupta S, et al.,       PLoS One. 2014 Jul 23;9(7):


Understanding the molecular basis of Neurodegeneration


Our focus is to advance our understanding of the genetic and molecular mechanisms responsible for neurodegenerative diseases and neuronal development. We have generated a Drosophila model of SCA8 associated neurodegeneration which is caused by CUG expansions in a non-coding RNA. The SCA8 mutation has molecular similarities to DM1, DM2, SCA10, SCA12 and Huntington’s disease-like type 2 (HDL2). By identifying genes/compounds, which are able to modify SCA8 phenotype in our fly model, we should be able to understand the disease pathogenesis in the above disorders as well.

Currently from a genetic screen we have identified several RNA Binding Proteins like Mbl,Staufen and Spoonbill, which suppress the neurodegenerative phenotype caused by expanded SCA8 non-coding RNA. We have seen that the KH domain of Spoonbill alone can suppress neurodegeneration and leads to massive depletion of  Riobonuclear foci, which is a hall mark of this disease (Tripathi BK, etal., Biochim     Biophys Acta. 2016 Sep;1862(9):1732-41. doi: 10.1016/j.bbadis)


Identification of Genes Affecting Apoptosis and Neuronal Development


A genetic screen for Drosophila mutants with shorter lifespan have identified ten   novel  genes with human homologues and interestingly we have identified novel regulators of cell death and neuronal development and these are being characterized. dlin52 a member of the Myb repressor complex containing RBF and E2F. We have shown that optimum levels of dlin52, the smallest protein in this complex is needed for formation of the repressor complex for repressing proapoptotic gene hid (Bhaskar PK, et al., Biochim Biophys Acta. 2014 Sep;1839(9):800-12. doi: 10.1016/j.bbagrm.2014

Another second locus, encoding an RNA helicase has been studied by us. It is strongly conserved across taxa, exhibits shortened life-span and induces apoptosis. We have annotated this gene as Maheshvara (mshv) since it causes apoptosis and reduction in tissue size. mshv,  is an evolutionary conserved DEAD box RNA helicase and exhibits strong neuronal expression and negatively regulates Notch signaling (Surabhi S, et al., Genetics. 2015 Nov;201(3):1071-85.


Seminario Geología, Bloque A Facultad Biológicas