#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


In this week’s article, we are looking into epilepsy and its associated proteins to gain perspective on possible therapeutic targets that could help alleviate symptoms. As we know, epilepsy is a common clinical feature of KAND; therefore, gaining a better understanding of potential underlying mechanisms for epilepsy could bring more insight regarding KAND. Delving into the paper, it first points out that scientists currently believe the cause of epilepsy arises from abnormal protein expression that restructures the brain’s network, resulting in increased and repeated seizures. The review then touches upon histone deacetylases (HDACs), which are enzymes that remove protein groups from histones, or proteins on DNA, to make the DNA less accessible to being processed. Additionally, they mention that HDACs can interact with their non-histone substrates to regulate protein function. 

Acknowledging the importance of the interaction between HDACs and their non-histone substrates, this paper highlights each HDAC class and their associated proteins to further understand how these engagements can contribute individually to the pathology of epilepsy. We also learn that non-histone substrates play a major role in the processes attributed with the abnormal function of HDAC, such as inflammation, cell death, and neuron survival. With this information, non-histone substrates become an emerging target for therapeutic benefits in epilepsy. Furthermore, learning how HDACs and their non-histone substrates communicate gives us more insight into the underlying mechanisms that cause epilepsy. These findings could help tremendously with creating specific inhibitors that can develop more effective ways to manage the disease. Want to read more about HDAC and its role in epilepsy? Click on the article below!

Rare Disease News

A cause for celebration: New gene editing tool offers promise of treating many genetic diseases

This is not the first time we’ve featured groundbreaking work out of Dr. David Liu’s lab at Harvard University, as he has been leading the field of genomic editing for the past few years. This week, the Liu lab released findings from a new study featuring a tool that can correct a kind of single-letter genetic mistake, specifically focusing on a rare disease known as Hutchinson-Gilford progeria syndrome (often referred to as progeria). These types of single-letter genetic mistakes are the cause of thousands of diseases, including many mutations found in KIF1A Associated Neurological Disorder.

How is this technology different from past gene editing tools? With previous technology, “gene editing tools work like scissors to cut the double-stranded DNA that serves as life’s blueprint.” However in this new study, the Liu lab describes a type of “base editor” tool that “works like a pencil, capable of erasing and rewriting a single letter mistake.” Using this DNA pencil, this study reveals the editing capabilities of base editors in both patient derived cell lines and a progeria mouse model. Encouragingly, these mice with a base-editor repaired gene were healthier and longer-lived. While it is anticipated that several more years of research are needed before this type of technology is available on a clinical level, the results from this study are a massive success and cause for celebration. Click the button below to read more!

“There’s a long road before the tool, called a base editor, can be used to treat a genetic disease… But establishing that a base editor can correct a mutation that causes a systemic and devastating genetic disease in an animal, rescuing many of the symptoms of the disease and greatly extending lifespan is a good start!”

Dr. David Liu

FLiCRE: A New Tool for Revealing the Brain in Action

A cellular tool that allows researchers to deep dive into brain cells to label and record cellular function: sounds like a scene out of a sci-fi movie! However, researchers at Stanford University are now turning this concept into a reality. This team of seven scientists has impressively combined their experitice in chemistry, genetics, biology, and neuroscience to create FLiCRE (pronounced “flicker”), or Fast Light and Calcium-Regulated Expression. In a recent study, this group has used FLiCRE to take a snapshot of neuronal activity with specific behaviors in mice. Furthermore, scientists were able to take the feedback from FLiCRE to identify activated neurons and reactivate neurons up to a day later. This study serves as a proof-of-concept for FLiCRE making one point very clear: the magnitude of capability with this tool is unprecedented. Both of our Rare Disease News articles in this edition of Science Saturday highlight a theme of exciting advancements in new biological tools that we are eager to follow in 2021. Want to learn more about one way our neurons become activated? Check out the video below to learn about action potentials!

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