#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-Related Research

The Developmental Biology of Kinesins

This week in Science Saturday, we’re asking a big picture question: how do we become what we are? On a scientific level, how can an embryo eventually turn into a full-blown adult? Furthermore, how do kinesin motor proteins like KIF1A contribute to this process? The answers to some of these questions lie in a type of biology known as developmental biology. What exactly is developmental biology? This is the process by which animals and plants grow and develop. More specifically, researchers in the field of developmental biology study how organisms grow and how this growth is controlled by specific genes.

In this review article, the authors highlight and discuss the developmental roles of specific kinesin motors to help clarify our understand of human development. While this paper does discuss the highly important role of KIF1A in neuronal development, it also covers the roles of many other kinesin proteins in our bodies. For example, did you know that kinesin motors are also required for embryonic, nervous system, reproductive, kidney, respiratory and intestinal system development? Our whole body relies on kinesin motors to develop specific organs and physiological systems! This is largely due to the cargo transport capabilities of kinesin motors. Much like we talk about KIF1A’s role in transporting cargo in our neurons, other cell types also rely on kinesin-mediated cargo transport to keep cells and organs functioning optimally throughout development and into adulthood. Want to learn more about how our genes give instructions to make and develop different parts of our bodies? Watch this fascinating (and quirky) video below!

Rare Disease News

Survey Finds COVID-19 Disrupted Care, Well-Being of Rare Disease Patients in Europe

With COVID-19 numbers increasing around the world, global rare disease communities are vulnerable to massive interruptions in patient care. To help communicate the experiences of those in the rare disease community throughout this pandemic, the European Organization for Rare Diseases (EURORDIS) has conducted a survey to assess “the impact of the first COVID-19 wave on the treatment, care, and well-being of nearly 7,000 rare disease patients or their caregivers (comprising 1,250 disease types) across 36 European countries.”

A staggering 84% of survey participants reported a type of care disruption due to the COVID-19 pandemic. This article goes on to report many more statistics from this survey that you can dig into by clicking the button below. Importantly, this article also discusses the positive impact of telehealth on the rare disease community during this time. To all of you living through the reality of COVID-19 related care disruptions, we recognize that this article may hit very close to home. Here at KIF1A.ORG, we’d like to reiterate our commitment to amplifying your voices and sharing your experiences with the people and agencies who need to hear it most. We will get through these trying times the best way we know how: together, hand in hand, fighting for the care and treatment our loved ones deserve.

“The second wave of COVID-19 across Europe has made it clear we will now be living with the pandemic for a long period… governments and healthcare systems have to move away from a fire-fighting approach, and work towards building more sustainable and resilient healthcare systems that do not forget the needs of the most vulnerable in the cloud of COVID-19… we need sustainable healthcare systems that leave no one behind — including the 30 million people living with a rare disease in Europe.”

Yann Le Cam, CEO of EURORDIS-Rare Diseases Europe

Cellular pathway of genetic heart disease similar to neurodegenerative disease

Recently, new advancements in genetic heart disease research have helped uncover a new mechanism for heart failure similar to that of neurodegenerative diseases. This allows for new grounds in research to be further explored that could lead to the accelerated development of therapies for degenerative diseases in the heart and nervous system. Following the article, a characteristic associated with neurodegenerative diseases known as the clumping of RNA-binding proteins, or molecules that bind to RNA to regulate gene expression, was found in a degenerative heart disease.

Scientists discovered this form of protein accumulation to be correlated to the protein aggregates found in the heart tissues of patients with RBM20 dilated cardiomyopathy, a type of heart failure that leads to weakened heart function. This particular heart disease is caused by a genetic mutation in the RBM20 gene, making it more difficult for the heart to pump blood to the rest of the body. For years, RBM20 dilated cardiomyopathy was thought to be a result of abnormalities that occur in the genes coding for proteins that help the heart contract. Recently, a newfound discovery determined that mutant RBM20 damages heart muscle cells in an alternative mechanism. Due to the research efforts of both Dr. Timothy Olson and Dr. Tim Nelson, this finding that RBM20 is an RNA-binding protein granule disease similar to diseases like ALS and Alzheimer’s, gives us a tremendous advantage in accelerating drug discovery for degenerative cardiovascular and neurological disease. To read more about these discoveries, click on the article below!

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