#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 and Science Communication Director Dr. Dominique Lessard. Send news suggestions to our team at impact@kif1a.org.

In Case You Missed It!

This week we hosted our 1st monthly KIF1A Research Roundtable, bringing together 16 researchers from 10 institutions with 1 goal in mind: bring treatment to this generation of KAND patients. This initial meeting included some of our long-term KIF1A Research Network members to discuss research updates and plans for the future. If you’re a KIF1A or rare disease researcher and would like to participate in future meetings, please contact KIF1A.ORG’s Science Communication Director, Dominique Lessard, at dvlessard@kif1a.org. We’d like to welcome you into our rapidly growing Research Network!

Recent KIF1A-Related Research

The mechanism of selective kinesin inhibition by kinesin binding protein

If kinesin motors like KIF1A are key players in the “cellular flow of traffic” during cargo transport, how is this traffic regulated? Often times we think of other microtubule associated proteins (MAPs) that can sit atop to the microtubule surface and directly regulate this process by acting as obstacles. However, many other proteins are known to regulate the kinesin-mediated traffic flow by physically attaching to kinesin motor machinery. The protein investigated in this paper, aptly named Kinesin Binding Protein (KBP), has previously been shown to interact with and regulate many kinesin proteins, including KIF1A. To understand this mode of kinesin regulation further, this paper expands our understanding of both KBP’s protein structure (the three-dimensional protein shape) and how that structure relates to KBP’s function. This study found that KBP’s specific protein structure allows it to bind to the motor domain of certain kinesin proteins, thus inhibiting kinesin transport, which helps to regulate the cellular flow of traffic. KIF1A was one of the kinesin proteins utilized in this study to help come to these conclusions.

Researchers of this study used many different experimental techniques throughout this paper. One of these techniques is a complex and powerful form of microscopy (the use of microscopes) called Cryo-Electron Microscopy, or Cryo-EM for short. Cryo-EM has been an extremely useful tool to help us understand more about how the shapes of certain proteins allow them to carry out their respective roles in our cells. To learn more about Cryo-EM, see the video below!

Rare Disease News

Study points to potential new approach to treating neurodegenerative diseases like glaucoma and Alzheimer’s disease

A recent study from researchers at Vanderbilt University Medical Center expands our understanding of how our bodies respond to damage of the optic nerve. The optic nerve is a bundle of nerve fibers at the back of our eye that transmits visual signals to our brain to help us see. Specifically, it was discovered that when the optic nerve of one eye becomes damaged, the other undamaged optic nerve can help mitigate this problem by sharing its energy reserves. However, by donating energy to the damaged optic nerve, the healthy nerve can then become vulnerable to damage itself. This finding was discovered by using many experimental techniques, such as mouse models and metabolic brain imaging, and helps us further understand how neurodegeneration can spread between different regions of the brain. While this finding is extremely informative, researchers admit that they still don’t know exactly how this process works. Do not fret–this is a common theme in scientific investigation! Often times, scientists will identify a certain phenomenon but have very little understanding of why or how the new finding is happening. These new and exciting findings often lead to extremely informative follow-up studies, pushing our understanding of new scientific concepts further and further.

Restoring mobility by identifying the neurons that make it possible

It was not that long ago that the concept of artificial intelligence (AI) was more of a science fiction concept, often depicted as a frightening tale of rogue robotic uprising. Now we know that AI, or machine learning, is an extremely helpful tool in many facets of biomedical research and therapeutic discovery. This article covers a recent study showing how AI can help increase the efficacy of treatment in a spinal cord injury/paralysis mouse model. In this study, a machine learning method was developed that helps identify specific types of neurons that are involved in spinal cord injury recovery to help boost our understanding and inform our methods of treatment. Of very important note, these researchers have also adopted an open-science mindset and have made this machine learning method publicly available!

“Whether you are working on cancer, Crohn’s disease, COVID, or multiple sclerosis, the central question remains the same, what type of cell is at the source of the problem? Our method speeds up the investigative process, and for this reason we have made Augur freely available.”

Dr. Grégoire Courtine

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