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academies
Cell Science, Stem Cell Research &
Pharmacological Regenerative Medicine
November 29-30, 2017 | Atlanta, USA
Annual Congress on
Adv cel sci tissue cul 2017 | Volume 1 Issue 2
Computational and molecular analysis of RTN4 as novel therapeutic option for axonal regeneration
Sumaira Kanwal
COMSATS Institute of Information Technology, Pakistan
D
emyelinating diseases, such as multiple sclerosis (MS),
Charcot Marie Tooth (CMT) are accountable for a
significant portion of the neurological disability burden
worldwide, especially in young adults. Communication
among the presynaptic terminus of a motor neuron and
the postsynaptic membrane of a skeletal myofiber take
place at the neuromuscular junction (NMJ). The fully-grown
mammalian central nervous system (CNS) has a deprived
aptitude to restore and return function after damage.
Reticulon-4, also known as Neurite outgrowth inhibitor or
Nogo, that has been identified as an inhibitor of neurite
outgrowth specific to the central nervous system. A large
number of genes have been associated with axonopathies
and one of the emerging subgroups encodes membrane-
shaping proteins with a central reticulon homology domain.
This suggests that membrane-shaping disorders might be
considered as a continuous disease-spectrum of the axon.
The ligand shows the interaction with the residues at
position of LEU133, ILE134, Pro135, LEU136, ILE155, ILE157,
LEU158, ASP160, TYR161 These are the conserved residues
and also found in the favored region. The analysis of RTN4
gene was performed on the DNA sample by amplifying and
sequencing all the coding exons and their flanking intronic
regions. However a missense mutation was found in exon 2
of RTN4 gene in the proband and later on whole family was
analyzed. The pathogenicity of the mutation was checked by
in silico
analysis by using the SIFT and Polyphen. As it is well
established, that RTN4 is involved in demyelinating diseases
like MS so it can be directly involved in CMT 1 disease. On
the other hand it can also be a genetic modifier through
NgR-p75(NTR)-Mediated Signaling.
Speaker Biography
Sumaira Kanwal is working as Assistant Professor at Department of Bioscience in
COMSATS institute of Information Technology, Sahiwal Pakistan. She was graduated
from Kongju National University, South Korea as a human geneticist. Her basic interest
in research is to find the genetic contribution primarily in Neuromuscular disorders,
Neurological disorders and epigenetic of complex phenotypes of the epilepsy Genetics.
Recently she did her post-doctoral research on the influence of micro RNAs on clinic-
genomics of CMT1A. She has numerous international Publications on diverse subjects
including Suicide, Polio eradication and role of Mitofusion2 in the development of
diversity of phenotypes. She has been an invited speaker at various prestigious forums
including International conference of the Genetics Society of Korea, 2016.
e:
sumaira.kanwal@ciitsahiwal.edu.pk