#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.

Recent KIF1A-Related Research

Kinesin-3 mediated delivery of presynaptic neurexin stabilizes growing dendritic spines and postsynaptic components in vivo

This week, we will be talking about a protein called neurexin (NRX-1) and its important role in the brain! We know from previous studies that neurodevelopmental disorders, such as schizophrenia and autism spectrum disorders, have been reported to arise from defects seen in the NRX-1 gene, which suggests that NRX-1 is critical for healthy brain function. As this protein is known for connecting neurons at the synapse, a.k.a. the space that exists between neurons, irregularities that prevent NRX-1 to carry out its function can lead to the improper development of neurons and abnormal transmittance of brain signals. With the mechanisms of NRX-1 not well defined, scientists from the University of Massachusetts Medical School and Albert Einstein College of Medicine set out to further understand the processes that NRX-1 is involved in. 

In this article, these researchers highlight NRX-1’s role in synapse development and function, as their data show that deletion of NRX-1 disrupted the normal growth of neurons and led to the improper localization of key components in synapses such as receptors. Additionally, they also demonstrate that kinesin-3/UNC-104 mediates the delivery of the NRX-1 protein necessary for synapse stabilization and maturation. As the authors propose that NRX-1 is a key UNC-104 cargo, defects in this transportation process carried out by the kinesin motor protein can potentially result in neurodevelopmental disorders. Overall, their studies reveal that UNC-104 delivery of NRX-1 is essential for the developmental progression towards maturity of neurons, synapses, and the connectivity between the two. To read more about these findings, click on the button to this preprint article below!

Rare Disease News

Brain-targeting drug delivery with nano-scaled apoptotic bodies

Delivering drugs to the brain has been and continues to be a big challenge for scientists and drug developers that are focused on targeting brain diseases. Recently, researchers from Nanjing University and University of Macau have found a new brain-targeting drug carrier called nano-scaled apoptotic bodies (ABs). ABs are most commonly associated with apoptosis, a process referred to as programmed cell death, and have been disregarded for many years since its discovery… until now! 

In this article, researchers revealed a potential solution that could help target drugs to the brain and penetrate the restrictive blood-brain barrier (BBB) that blocks most molecules from reaching the brain. This protective barrier is the reason why many scientists struggle to find an effective drug delivery method to the brain that isn’t blocked by the BBB. In addressing this obstacle, the researchers studying the small apoptotic bodies (sABs) were able to demonstrate the molecule’s ability to transport a drug through the BBB to the brain of mice with Parkinson’s Disease to alleviate disease development! On top of that, sABs also prove to be advantageous because of their uniform size, stability, and high drug loading efficacy. This new major discovery could be HUGE for the future prospects of therapeutics regarding drug development and delivery systems for brain diseases! To read more about this fascinating research and learn more about the BBB, click on the button and video below!

Gene therapy offers potential cure to children born without an immune system

A remarkable experimental gene therapy development was recently conducted by researchers from UCLA and the Great Ormond Street Hospital in London, which successfully treated 48 of 50 children with rare immunodeficiency disorders! This rare and life-threatening inherited disease known as severe combined immunodeficiency (SCID) results from a shortage of an integral protein called adenosine deaminase (ADA), which is critical for healthy immune function. Without ADA children are highly susceptible to infections that could be easily fought off by a capable immune system. Therefore, this research team has been focused on creating a therapeutic to combat this fatal disorder. 

In this article, the author highlights this investigational gene therapy method as a one-time procedure that may have lifelong results and involves inserting a normal ADA gene copy into patients’ stem cells. First, stem cells are collected from patients’ blood or bone marrow. Then, a lentiviral vector, or a harmless virus used as a way to deliver treatment, is repurposed to deliver the normal ADA gene into the stem cells that are then returned to the patients’ bodies to continually produce new and healthy immune cells to fight off infection. With the clinical trials showing such a high success rate (>95%) and minimal side effects, this lentiviral gene therapy approach is welcomed as a new potential treatment for children diagnosed with (ADA-SCID). Additionally, this method could also be applied to other genetic diseases, which could be a huge advancement for the rare disease therapeutic field. To read more about this incredible research, check out the article below!

“If approved in the future, this treatment could be standard for ADA-SCID, and potentially many other genetic conditions, removing the need to find a matched donor for a bone marrow transplant and the toxic side effects often associated with that treatment.”

Dr. Claire Booth

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