Revealing the complete gene-set that influences the health of the neuromuscular system
Some forms of MND including ALS can be inherited. This means that a faulty gene is passed from one generation to the next. In seemingly non-inherited forms, genes can also influence disease severity and/or progression.
Motor Neuron Disease or MND is the name given to a group of diseases that affect special cells in the brain and spinal cord, which control the muscles. These special cells are called motor neurons and their death leads to weakness and wasting of muscles, causing loss of mobility in the limbs and/or difficulties with breathing and speech.
Amyotrophic Lateral Sclerosis (ALS) and Spinal Muscular Atrophy (SMA) are the two most common MNDs of adulthood and childhood, respectively. SMA and a small percentage of ALS cases are caused by genetic factors. In this regard, mutations or flaws in the DNA are passed from one generation to the next and the disease is said to be inherited or familial.
The ALS/MND laboratory within the University of Malta is studying known and unknown genes that cause or modify MND. Several of these genes produce proteins that are expressed in every cell of the body where they perform a crucial ‘housekeeping’ role. In this regard, a key research question of our lab is why disruption of these proteins cause selective degeneration of the neuromuscular system. Knowledge gained is the first crucial step leading to discovery of effective treatments.
The University of Malta’s MND/ALS Laboratory is at the forefront of research to better understand what causes MND/ALS. The Laboratory’s research programme undertakes a multidisciplinary approach to study motor neuron degeneration including genetic, cellular biology, biochemical, and animal model studies.
The University of Malta hosts the Malta MND/ALS Biobank, a collection of biological samples including DNA collected from Maltese patients subject to consent. This unique repository is a valuable resource because it allows researchers to keep investigating the disease with the aim of generating new knowledge.
Through participation in Project MinE, Maltese MND/ALS researchers are part of an international collaborative effort that aims for a better understanding of the genetic causes of this devastating disease. Thus far, fundraising for Project MinE in Malta was key to analyse over 20 Maltese DNA samples, an excellent start! The goal for Malta is to map 100 DNA profiles.