#ScienceSaturday posts share exciting scientific developments and educational resources with the KAND community. Each week, Dr. Dominique Lessard and Dr. Dylan Verden of KIF1A.ORG summarize newly published KIF1A-related research and highlight progress in rare disease research and therapeutic development.

This week we have a very special edition of #ScienceSaturday that highlights a handful of recent advancements from KIF1A.ORG Research Network members and more!

KIF1A-Related Research: In Review

What is a Literature Review Paper?

To understand KIF1A and KAND, researchers have to create simplified models to ask incredibly specific questions; our Research Network comprises dozens of these projects, each of which contribute to our knowledge of KAND.

Because these studies are so specific, and because science is always advancing, it’s helpful to step back for a bigger picture: How do new discoveries fit into what we know about KIF1A and KAND, and what questions are still unresolved?

One way to get this big picture is through a type of publication called a literature review, which collects and summarizes findings from published studies. These are invaluable resources that allow researchers to see patterns and gaps in our understanding of KIF1A and KAND. They can also make it easier to explain the importance of rare disease research to new stakeholders by summarizing complex information. This week we share two such reviews that tackle different parts of the KIF1A field.

Insight into the regulation of axonal transport from the study of KIF1A-associated neurological disorder

First, we are excited to share a literature review of KIF1A from Kyoko Chiba, Shinsuke Niwa, and colleagues at Tohoku University. Dr. Niwa has been studying KIF1A since he was a graduate student and has been an integral member of KIF1A.ORG’s Research Network. You can learn more about Dr. Niwa in our Get To Know Our Researchers post, and hear about his research from our interview last August:

In this review, the authors synthesized information from 100 papers to summarize our knowledge about many important questions in KIF1A Biology, including:

  • What interacts with KIF1A? These represent potential therapeutic targets.
    • What types of cargo does KIF1A carry, and how does this cargo being in the wrong place relate to disease symptoms?
    • What proteins activate or deactivate KIF1A cargo transport?
  • What types of disorders have been associated with KIF1A mutations?
  • What are the differences between loss-of-function and gain-of-function mutations in KAND, and why do both contribute to disease?

This information can inform research projects by other researchers and help guide the search for new therapeutics. We’re grateful to Dr. Niwa’s group for their continued commitment to translational research for the KAND community.

KIF1A-Associated Neurological Disorder: An Overview of a Rare Mutational Disease

The second review we’d like to share is from an international group of researchers from India, Saudi Arabia, and South Korea. These authors screened 2980 records to find 114 relevant studies and reports relating to KIF1A and KAND. In addition to a brief summary of KIF1A function and structure, this review focuses on diseases associated with KAND. As we’ve discussed in previous posts, different KIF1A mutations can cause varying symptoms that are diagnosed as different diseases. The authors outline connections between KIF1A mutations and a variety of diseases, including:

  • Hereditary Spastic Paraplegia: Spasticity and weakness in lower limbs.
  • NESCAV Syndrome: Intellectual disability and developmental delay
  • PEHO Syndrome: Brain atrophy, particularly in the cerebellum
  • Autism Spectrum Disorder: Communication and expression deficits

When it comes to mutations, molecular researchers tend to be interested in the biomechanics of KIF1A, while clinicians are interested in finding a suitable diagnosis to inform treatment options. By bridging these two fields, this review provides context for how KIF1A dysfunction associates with different symptoms.

Dissertation: Chemomechanical Characterization of the Superprocessive Kinesin-3 KIF1A

Lastly, we would like to celebrate a recent dissertation published by Dr. Taylor Zaniewski, who completed her PhD in the lab of Dr. Will Hancock, another member of our Research Network who has published multiple papers on KIF1A in the last year. You can learn more about the Hancock lab’s approach to KIF1A research from our interview last August.

The dissertation is the 200-page culmination of a PhD: The first chapter of the dissertation is a literature review of KIF1A biology, while the rest is an outline of research conducted over the course of the degree, some of which has been published as peer-reviewed papers. It is a massive undertaking and we offer our sincere congrats to Dr. Zaniewski!

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