UNIVERSITY OF MALTA
LIFE SCIENCE RESEARCH SEMINARS
Web: http://www.um.edu.mt/events/scisem/
Email: scisem@um.edu.mt
Abstract form
Title: Modelling the motor neuron degeneration disorder, Spinal Muscular
Atrophy, in Drosophila
Presenter: Rebecca Borg
Contact address: Room 144, Biomedical Sciences Building, University of Malta
Tel: 79900471
Fax:
Email: rebecca.borg.09@um.edu.mt
Presentation date: 19/05/2014
Abstract
Spinal muscular atrophy (SMA) is a common genetic killer of infants. It is characterized by
progressive loss of motor activity due to death of motor neurons and degeneration of
muscles. The cause of this devastating neuromuscular disorder has been pinned on very low
levels of the survival motor neuron (SMN) protein. SMN partners with the Gemin proteins to
form a highly-ordered complex. The best-characterised function of the SMN-Gemin complex
involves assembly of small nuclear ribonucleoproteins (snRNPs), which are the basic units
that form the spliceosome or the chief editor of messenger RNA (mRNA) molecules that
instruct cells how to fabricate proteins.
Flies have a minimalistic SMN-Gemins complex that is amenable to genetic manipulation.
Our project aims at harnessing this systems model organism to answer questions related to
the function of the SMN-Gemins complex in muscle and motor neurons, the two tissues that
are most severly affected in SMA. We describe our current work on the phenotypes resulting
from disruption of the Drosophila SMN-Gemins complex. Our findings inform on the
molecular pathway that might be negatively impacted in SMA.