United States: According to new research, it is revealed that prion disease mutations could make alterations in the structure of neuron synapses long before symptoms emerge.
The findings have made the scientists understand that prion diseases might be part of a loss of normal prion function, resulting in early damage to the brain.
More about Prion disease’s effects
Genetic prion disease makes an appearance in the affected via cognitive difficulties, weakened muscular coordination, and abrupt jerking movements of groups of muscles and/or entire limbs.
Moreover, the most commonly known underlying cause of prion diseases is the mutation of the prion protein (PrP).
According to David A. Harris, MD, PhD, a co-corresponding author, and the Edgar Minas Housepian professor and chair of the department of biochemistry & cell biology at the school, “Our findings suggest that there could be detectable abnormalities in neurons long before the primary symptoms of inherited prion diseases appear,” neurosciencenews.com reported.
What more are the experts stating?
Harris and his colleagues derived a large library of induced pluripotent stem cells (iPSCs) (blood cells reprogrammed back into an embryonic-like pluripotent state that can give rise to any type of human cell required for therapeutic purposes) from a family in possession of this mutation and differentiated these into neurons.
They then made a comparison of neurons from mutation carriers with neurons of non-carriers.
They also employed the CRISPR/Cas9 gene editing tool to counter the mutation in two lines so that these comparisons could be made between neurons with only one genetic difference: the mutation of interest.
The researchers have found that the application of iPSC technology has brought the dream of personalized treatments a little closer.
As o-corresponding author Gustavo Mostoslavsky, MD, PhD, professor of medicine & microbiology at the school and co-director at the BU and BMC Center for Regenerative Medicine said, “Our study employs the largest collection of iPSCs from a family harboring an inherited prion disease that we are aware of. iPSC-derived neurons can provide important mechanistic insights into the pathogenesis of genetic prion diseases and can offer a powerful platform for testing candidate therapeutics,” neurosciencenews.com reported.
The researchers feel that this work is helpful in progressing knowledge of this group of relatively rare but extremely debilitating neurodegenerative diseases that harm the axons in the brain – the connections between nerve cells – and gives an indication of the approaches that hold the most promise in facing the clinical manifestations of these diseases.
“Similar therapeutic approaches may also be applicable to Alzheimer’s and other neurodegenerative diseases, some cases of which are inherited,” Harris mentioned.