#ScienceSaturday posts share relevant and exciting scientific news with the KAND community. This project is a collaboration between KIF1A.ORG’s Research Engagement Team Leader Alejandro Doval, President Kathryn Atchley, Science Communication Associate Aileen Lam and Chief Science Officer Dr. Dominique Lessard. Send news suggestions to our team at impact@kif1a.org.

KIF1A-Related Research


This week, KIF1A.ORG published a NEW Research Simplified article created by Dr. Simran Kaur from the Christodoulou Lab at the Murdoch Children’s Research Institute. In this resource, Dr. Kaur walks us through her recent publication investigating the overlap in phenotypic characteristics between KAND and Rett syndrome resulting from KIF1A mutation. Thank you Dr. Kaur for being a committed member of our Research Network and engaging our community in the world of KIF1A-related scientific discovery!


For this week’s news, we’re diving into the complex connectivity between synapses of individual neurons in the brain and how KIF1A plays a role in this process. KIF1A is very important for transporting cargo in neurons, so being able to understand how it contributes to communication that occurs in the brain brings us insight on how it might relate to disease. This article focuses on the crucial regulation of the AMPA receptor, a structure that helps promote fast neurotransmission and plays a significant role in the process of storing information during learning and memory. It begins with GluA1, a component of the AMPA receptor, which is known for mediating the durability of synapses. GluA1 is also regulated by brain-derived neurotrophic factor (BDNF) and heterogeneous nuclear ribonucleoprotein (HNRNP) A2/B1, both important for neuronal health. Scientists then found that GluA1 expression was modulated by HNRNP A2/B1 in the presence of BDNF stimulation, giving us insight on how brain connectivity is regulated.

Now the question is, how is KIF1A involved in all of this? We are still unsure of how BDNF enhances HNRNP A2/B1 expression. One idea that researchers have is that these interactions are KIF1A mediated. As BDNF is known to promote KIF1A cargo transport, BDNF may up-regualte HNRNP A2/B1 accumulation in dendrites by facilitating the loading of HNRNP A2/B1 in cargo vesicles to be transported by KIF1A. Seeing how BDNF and HNRNP A2/B1 are involved in neuron connectivity, and understanding how KIF1A plays a role in this process, gives us more information about how KIF1A contributes to brain development. To read more into this study, check out the paper!

Rare Disease News


Recently, scientists made major advancements in the field of regenerative medicine by discovering a drug, SDV1a, that can attract stem cells to damaged areas within the body to improve treatment outcomes. This new finding could greatly improve current stem cell therapies targeted at neurological and neurodegenerative disorders, as well as new conditions such as arthritis and heart disease. Dr. Evan Synder and his team initially found that stem cells were drawn to inflammation and focused on modifying an inflammatory molecule, CXCL12, that was previously discovered by their team.

These modifications led to the development of SDV1a, a drug that can be injected anywhere to help enhance stem cell binding at affected regions and decrease inflammatory signaling. Moving forward with this major finding, scientists have already started testing the ability of SDV1a to improve stem cell therapy in an ALS mouse model. Studies have shown that expanding the spread of neural stem cells helps with motor neuron survival, which leads scientists to believe that calculated injections of SDV1a will contribute to slowing the onset and progression of neurodegenerative diseases, as more areas are covered by neuroprotective stem cells. This recent discovery of the SDV1a drug plays a significant role in improving stem cell treatment efficacy, as it presents a new way to direct therapeutic impact to a specific location for repair and can be potentially beneficial to not only neurodegenerative disorders but also ones regarding the heart, brain, and bones. To learn more about the power of stem cells, click the video below!

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