#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.

KIF1A.ORG In The News

Only 300 people are known to live with this toddler’s same rare degenerative disease

This week, Hoyt’s superhero story was shared by Good Morning America! Enjoy the video below to learn more about Hoyt’s story, Bryn and Andrew’s experience as parents, and our mission at KIF1A.ORG.

Recent KIF1A-Related Research

Increased LRRK2 kinase activity alters neuronal autophagy by disrupting the axonal transport of autophagosomes

As the broader term neurodegenerative diseases includes an array of different disorders that affect the brain, many are found to occur because of defects in the axonal transport system. For example, KAND results from defects in the KIF1A motor protein that are thought to affect cellular transport. Another neurodegenerative disease that occurs from disruptions to axonal transport is Parkinson’s Disease (PD). It is commonly associated with mutations in the leucine-rich repeat kinase protein 2 (LRRK2) gene that encodes LRRK2, a protein that affects intracellular trafficking. These PD-causing mutations increase LRRK2 activity, which in turn affects the function of Rab GTPases, also known as key protein regulators of intracellular transport. Being able to trace and observe this cascade of events, researchers showed the link between increased LRRK2 activity and defects in the transport of autophagosomes in the cell. Autophagosomes are important because they are critical players in the process of autophagy, which removes damaged cells so that new and healthier cells can replace them. Therefore, defects to this process can ultimately lead to neurodegenerative diseases. 

In this paper, researchers detail the connection between LRRK2 dysfunction and neuronal autophagy by first discussing how the overexpression of Rab proteins affects the amount of time transport motors carrying autophagic vesicles can stay on the microtubules. In turn, this leads to the impaired maturation of autophagosomes and the overall autophagy process, which is found to contribute to PD. To add, researchers also found that increased LRRK2 activity led to the recruitment of a protein called JNK-interacting protein 4 (JIP4) to the autophagosomal membrane, inducing the activation of kinesin motor proteins. This recruitment results in an unproductive push and pull as multiple motors are acting on the transport of the autosomal vesicle, further stalling maturation and autophagy. These key findings about the linkage of a commonly PD-associated gene with the axonal transport of autophagosomes gives more insight on the underlying mechanism of PD. This research also applies to neurodegenerative diseases as a whole, as many exhibit defects in axonal transport and autophagy. To read more about these amazing discoveries from the Holzbaur lab, a KIF1A.ORG Research Network member, click on the paper below! Want to learn more about autophagy? Check out the videos below as well!

Rare Disease News

Reflecting on the Commonalities That Exist Among Rare Disease Patients

With over 7,000 known rare diseases, it may be difficult to imagine how they could all be connected. However, recent feedback from different rare disease groups show that there are many more commonalities shared amongst these communities than you would think! Charlene Marshall of BioNews helped come to this conclusion when they held a Rare Disease Day virtual event in February for the rare disease community to discuss mental health and chronic illness, which included patients, caregivers, researchers, and medical professionals. By having the participants group up with people in different rare disease communities, many found that they could relate to each other and resonate with one another’s stories despite the rare disease type.  

In this article, the author highlights the similarities that different rare disease patients share and how these conversations are important learning opportunities to help the community feel more connected. One commonality that rare disease patients experience is the side effects of taking medications. Patients mentioned that having these conversations with other patients was reassuring and helpful, as they learned about each other’s tips on the management of side effects. Another shared component that is the experience patients have navigating the healthcare system. As rare disease patients endure long hospital visits and painful procedures, being able to vent about the obstacles and successes regarding the healthcare system is extremely therapeutic. On top of that, these patients are no stranger to fatigue and exhaustion, so having these feelings acknowledged by others who also experience it is comforting. Lastly, patients explained that being able to share their concerns and fears about mortality to those that have similar thoughts helped them feel understood and less alone. Overall, this article emphasizes how the rare disease community is connected and shares common experiences, feelings, and thoughts despite the differences of rare disease types. To read more about the commonalities of rare disease patients, check out the link below!

Scientists discover new genetic disease that delays brain development in children

Mice, worms, flies, and fish are all different types of model organisms that can be used in preclinical research focused on understanding and treating rare disease. Recently, researchers at the Universities of Portsmouth and Southampton are using a different type of model organism: tadpoles! In this study, a tadpole model was used to help discover a genetic disease that is so new it has no name (we’ve been there before!), but can present with delayed intellectual development, early onset cataracts and microcephaly  (born with a smaller head than expected). This team of frog geneticists was able to identify a mutation in the coat protein complex 2 (COPB1) gene that causes this rare genetic disorder. Click the button below to read more about this new discovery. If you’d like to learn more about the power of tadpoles and frogs, check out this video!

“This is the first time that the tadpole has been used in such a direct way to help solve a clinical challenge. In our initial experiments to test the link between a genetic variation and a disease we found to our surprise that by altering the DNA of tadpoles, four times out of five we could re-create the disease-related changes seen in human patients. This will allow us to support our colleagues in providing more timely, accurate diagnosis that patients and their families so desperately need.”

Professor Matt Guille, University of Portsmouth

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