#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

Motor proteins at the mitochondria-cytoskeleton interface

Mitochondria are known for their involvement in many important functions in the cell such as cell signaling, energy production, programmed cell death, and so much more (hence their nickname being “the powerhouses of the cell”). As mitochondria play active roles in multiple cellular processes, their regulation within the cell is essential for proper human function. Therefore, understanding the underlying mechanisms that are involved in facilitating the roles of mitochondria in cells will give researchers more insight on how diseases associated with dysfunctional mitochondria manifest.

In this review, the authors highlight the critical roles that motor proteins (like kinesin, dynein, and myosin) play in regulating the environment surrounding mitochondria. Motors like kinesin-1, kinesin-3, dynein-1, and myosin V are all involved in an intricate interplay that contributes to transporting and positioning mitochondria within the cells. Additionally, these motor proteins aid in the formation of mitochondria’s three-dimensional shape, as well as help to organize the surrounding structures that lie outside of this cellular component. These authors also make note of the adaptor proteins associated with the motors previously mentioned and how they facilitate the creation of larger complexes that take part in signaling, positioning, and transporting. From this comprehensive review, the important functions that motor proteins carry out at the mitochondria-cytoskeleton interface are further emphasized. The authors propose that elucidation of these processes will yield a better understanding of how malfunctions in the mitochondria can lead to human diseases. Additionally, as KIF1A falls under the kinesin-3 umbrella, deeper investigations of its link to mitochondrial function may give us an idea of how disruptions to its normal behavior can lead to neurodegenerative diseases. To read more on this review, check out the paper linked below!

Rare Disease News

Step-Closer to Nasal Spray Drug Delivery for Parkinson’s Disease

The brain, one of the most important organs in our body, is essential for many of our basic and complex functions, such as movement, behavior, learning, speech, and so much more. Because of its critical role, the brain must be protected from foregin substances that may enter our system. One way that substances are regulated towards and away from the brain is through the blood brain barrier (BBB), which serves as a gateway that only allows specific substances to enter or exit the brain. Although this protective border is essential for proper brain function, it can also serve as a challenge for drug developers who want to target a drug to the brain, as the BBB may not allow these drugs to pass. However, a recent development of a drug in the form of a nasal spray gel might just be able to overcome this obstacle!

This article details how researchers have recently developed a new gel that can release a drug called levodopa, which can deliver treatment directly to the brain for patients with Parkinson’s Disease. Levodopa is a common drug used to treat symptoms of this disease, but overtime, the drug dosage needs to be increased to be effective. However, this new gel that is loaded with levodopa adheres well to the inside of the nose, which allows for better uptake of the drug into the blood and brain. By using this newly created gel in the form of a nasal spray, scientists report success of drug delivery to the brain and an increase in drug uptake when compared to other methods of drug delivery. With this incredible development, researchers are also looking to implement this delivery method for other neurodegenerative diseases that would benefit from having drugs targeted directly to the brain. Want to learn more about the blood brain barrier? Watch the video below!

Unprecedented data sharing driving new rare disease diagnoses in Europe

As an estimated 50% of patients with rare diseases are undiagnosed in Europe, researchers are working tirelessly to address this critical issue. To do so, rare disease experts are joining forces as part of an international consortium called Solve-RD to help diagnose the unsolved rare disease cases all across Europe. These researchers have shown that periodically reanalyzing patient information from those living with rare diseases and then sharing this data can increase the chances of diagnoses. In using this method, an initial reanalysis of patient data from 8,393 individuals led to 255 new diagnoses! This review of information regarding those with unsolved rare diseases was made possible by the RD-Connect Genome-Phenome Analysis Platform, which allows authorized clinicians and researchers to access shared patient data. By assisting undiagnosed rare disease patients reach a diagnosis, scientists and clinicians are helping these individuals to be more informed and also receive tailored treatments. All in all, this new approach of data sharing and reanalysis serves as an initial step towards creating a system that can facilitate rare disease diagnoses. To read more about this unprecedented method to solve undiagnosed rare disease cases, check out the article below!

“Solve-RD has shown that it is possible to securely share large amounts of genomics data internationally for the benefit of the patients. The work we are publishing today is just the tip of the iceberg, since many more patients are being diagnosed thanks to the innovative methods developed and applied within Solve-RD.”

 Sergi Beltran, Ph.D., co-leader of Solve-RD data analysis

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