#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 Chief Science Officer Dr. Dominique Lessard. Send news suggestions to our team at firstname.lastname@example.org.
Recent KIF1A-Related Research
Microtubule Dysfunction: A Common Feature of Neurodegenerative Diseases
In order for KIF1A-mediated cargo transport to occur, KIF1A must maintain an important relationship with microtubules that act as the tracks or roadways towards the cargo’s final destination. Due to the nature of KAND, we spend a lot of time discussing how this relationship can be impaired when KIF1A has a mutation. But what happens to KIF1A and other proteins when tubulin, the building block of microtubules, has a mutation? Mutations and modifications of tubulin have been recorded in a variety of different locations with relevance to neurodegenerative diseases. This review covers how these different changes regulate microtubule function in healthy and disease state neurons.
Furthermore, the authors go on to describe how specific mutations of tubulin can impair microtubule/kinesin relationships. Related to KAND, we learn that a specific mutation (D417) of tubulin (type TUBB2A) creates an environment where KIF1A cannot bind to the microtubule to engage in cargo transport. This highlights how important the tightly-tuned relationship between KIF1A and the microtubule must be for optimal cargo transport and neuronal health. Lastly, this paper discusses common therapeutic interventions involving microtubules, most of which are centered around stabilizing the microtubule tracks or targeting post-translational modifications, like we talked about in last week’s Science Saturday.
Rare Disease News
A Revised Map of Where Working Memory Resides in the Brain
How does memory work within our brains? Despite the massive number of times per day that we rely on memory to perform certain tasks, the process of working memory has long been debated. Historically, working memory has been ascribed to one specific region of the brain known as the prefrontal cortex. However, this article provides a beautiful summary of recent research findings revealing that working memory is achieve by a coordinated effort of multiple regions in the brain. Have a read through this article to learn more about how researchers can study mice to expand our understanding of memory from a behavioral to a genetic level. Want to learn more about how researchers are able to “look inside” the brain? Enjoy the video below!
Part 1 – Gene Therapy: A Genetic Counselor’s Perspective
We’re following a four-part series on Global Genes’ RARE Cast podcast about gene therapy. The first episode is a 20-minute conversation with genetic counselor Stephanie Gandomi. Throughout this interview, Stephanie discusses many topics such as gene therapy basics, the power of gene therapy for many rare diseases, patient considerations for engaging in the gene therapy trials, and more!
“… it’s just incredible to see just how much progress we’ve made in such a short span over the last 5, 10, 15 years … I am really hopeful that we continue to see this level of rapid progression and we just continue to see trials emerging and these therapies coming to market.”Stephanie Gandomi, genetic counselor