#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.

Happy #NationalDNADay!!!

Today is National DNA Day! Click the image below to learn more!

Recent KIF1A-Related Research

Spastin mutations impair coordination between lipid droplet dispersion and reticulum

In last week’s Science Saturday we talked about the role of lipids, or fat molecules, in KIF1A cargo transport. This paper continues that theme by helping us understand the importance of lipid distribution in our cells. In other words, how do lipids move around inside of our cells and what happens when the distribution of lipids is altered? From this study, we learn that a protein known as Spastin is an important regulator of lipid distribution in a Zebrafish model and in human cell lines. Spastin mutation is a common cause of Hereditary Spastic Paraplegia, a neurological/movement disorder that has also been linked to mutations in KIF1A. The authors conclude this study with the idea that “KIF1A may also play a role in this [process], potentially representing the engine that actively spreads [cellular components] along microtubules”.

Tubulin tails and their modifications regulate protein diffusion on microtubules

Microtubules are the roadways, or railroad tracks, upon which KIF1A transports cargo. Much like the roadways we drive on, microtubules may undergo a variety of different modifications that can either help or hinder the flow of traffic. For example, we know that KIF1A function can be modulated by a specific type of modification known as polygluamylation. This paper is focused on how certain microtubule modifications, including polyglutamuylation, control a type of motion known as diffusion. We can think of protein diffusion as a “drifting” type of motion, not directed motion like we observe in cargo transport. Many microtubule associated proteins rely on diffusion to engage in specific cellular processes. Furthermore, this paper investigates how modifications to microtubules change the dynamics of other proteins on the microtubule surface, like tau. Work out of the Ori-McKenney lab and Berger lab have started investigating the relationship between KIF1A and tau. While not directly looking at KIF1A, this paper helps us “connect the dots” between many studies!

Rare Disease News

Novel gene promoters could improve gene therapies for neurological diseases

The idea of gene therapy is often proposed for many neurological diseases linked to genetic mutations or alterations in gene expression. In this scenario, an unmutated copy of a certain gene would be delivered by packaging up the gene of interest into a “viral vector”. A viral vector is a type of machinery used by viruses to carry genetic content into cells. Lately, we have been hearing a lot about the potentially dangerous and negative effects of viral delivery, like we observe in COVID-19 infections. It is important to note that, when it comes to using viral vectors for gene therapy, this type of viral content is safe and benign in our bodies. This article summarizes a recent advancement in the process of gene therapy that is focused on an area known as the promoter. The promoter is situated at the start of a gene and plays a vital role in controlling how a gene is read or turned “on”. Notably, this research team has designed a much smaller version of a gene promoter, allowing more room for larger genes to fit into viral vectors for gene therapy.

Building a Scientific Community that is More than the Sum of its Parts

Take a few minutes to read this great article from Chan Zuckerberg Science Initiative highlighting the importance of scientific collaboration, challenging paradigms, awareness of cultural inequalities, open science, and remembering our “why”. KIF1A.ORG is a proud member of the Rare As One Project, also supported by CZI.

“We believe that sharing results, data, and resources, including software, code and also experimental tools, as early as possible accelerates the progress of science.”

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