#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.

Welcome KIF1A.ORG 2021 Summer Interns!

Please help us welcome two interns from the M.A. Program in Biotechnology at Columbia University: Jerry Shen and Michelle Tao! We’re excited to have Jerry and Michelle share their skills and experience with KIF1A.ORG this summer to help advance our mission! Learn more about their projects on our blog.

Recent KIF1A-Related Research

Mutations and Protein Interaction Landscape Reveal Key Cellular Events Perturbed in Upper Motor Neurons with HSP and PLS

She’s done it again, folks! Dr. Özdinler and her team at Northwestern have shared another publication, this time bringing insight to the mutated genes that are involved in Hereditary Spastic Paraplegia (HSP) and Primary Lateral Sclerosis (PLS). Both HSP and PLS are rare motor neuron diseases that result from the deterioration of upper motor neurons (UMNs). These essential structures play an important role in maintaining the communication and connections that occur between the brain and spinal cord. Recognizing the important role that UMNs have in human movement and function, these researchers sought to gain a better understanding of the genes and proteins involved in HSP and PLS. 

In this paper, these scientists report on the critical HSP and PLS genes and proteins that are essential for UMN health and stability in great detail. Additionally, these researchers conducted further studies on the protein products that were created from the mutated genes of HSP and PLS. From this, they found that proteins involved in maintaining lipid balance, cellular dynamics, and other protein-protein interactions were most relevant to the functionality of UMNs. As a quick reminder, lipids have many functions and are essential to the human body, as they serve as signaling molecules, structural elements, and a source of energy. With the data produced from these investigations, these researchers reveal key proteins that are involved in the pathways and cellular events of UMNs. This comprehensive understanding allows for a better grasp of how protein perturbations caused by mutations can lead to motor neuron diseases like HSP and PLS. Additionally, since HSP has been associated with KAND, this research could also give us a better idea of which proteins and cellular events are relevant for KAND. Want to read more about this study? Click on the paper below!

Rare Disease News

Major advance enables study of genetic mutations in any tissue

News alert! Scientists have recently discovered a way to study changes in the DNA of any human tissue. This new method called nanorate sequencing (NanoSeq) has tremendously improved the ability to analyze the occurrence of genetic changes with high accuracy and is proving to be a major advancement for cancer and ageing research. Before this discovery, genome sequencing that occurred in non-dividing cells was far more difficult. This limited the scope in which scientists can observe mutations, as many cell types in the human body are non-dividing. 

To address these limitations, scientists at the Wellcome Sanger Institute worked to refine an advanced sequencing method called duplex sequencing and improved the accuracy to achieve fewer than five errors per billion letters of DNA! This incredible advancement now allows researchers to more accurately study mutations that occur in non-dividing cells that may arise in any human tissue. In addition to providing more insight on how and where mutations occur, NanoSeq also makes studying these mutations easier, cheaper, and less invasive. Instead of having to take tissue samples from patients that may be costly and require an intense procedure, samples can now be collected from swabbing the inside of the mouth or a gentle scraping of the skin. Overall, NanoSeq opens up many new avenues for research and eventual therapeutic developments down the road! To read more about this incredible new advancement, check out the article below.

“The application of NanoSeq on a small scale in this study has already led us to reconsider what we thought we knew about mutagenesis, which is exciting. NanoSeq will also make it easier, cheaper and less invasive to study somatic mutation on a much larger scale. Rather than analysing biopsies from small numbers of patients and only being able to look at stem cells or tumour tissue, now we can study samples from hundreds of patients and observe somatic mutations in any tissue.”

Dr. Inigo Martincorena

Treating neurological symptoms of CHARGE syndrome

Ever heard of CHARGE Syndrome? With only 1 in every 10,000 newborns affected, CHARGE Syndrome is characterized as a rare neurological disorder that is caused by mutations that occur in the CHD7 gene. Ultimately, this gene is important for producing a protein, chromodomain helicase DNA binding protein-7, that plays a critical role in regulating neurons that are essential for brain function. Therefore, patients with a CHD7 variant display neurological and behavioral symptoms such as seizures, autistic characteristics, intellectual disability, and issues with attention. 

Although CHARGE Syndrome was first described in 1979, there is still no known treatment on the market for this disease. Currently, scientists, such as Dr. Patten and his team, are continuing to research the underlying causes of CHARGE Syndrome in order to understand how to best treat it. By further studying the clinical symptoms that this disease presents, this team of researchers gained more insight on CHARGE Syndrome and conducted a drug screening on already FDA-approved drugs to identify potential candidates for treatment. From this, they found a drug called ephedrine to have the most therapeutic effect on CHARGE Syndrome. Finding that this compound could alleviate the neurological and behavioral symptoms associated with CHARGE is a huge step forward in discovering a treatment for this rare disease. Not only that, but this research process leading to the identification of ephedrine could be applied to other disorders that are similar to CHARGE and open up new avenues of treatment for other rare diseases. To read more about this discovery and CHARGE Syndrome, check out the article and video below!

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