#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.

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Do you want to re-watch any of the sessions from the 2021 KAND Family & Scientific Engagement Conference? Couldn’t join us on July 9 & 10? We’ve got all of the conference recordings and materials for you in one place!

Recent KIF1A-Related Research

Current Knowledge of Endolysosomal and Autophagy Defects in Hereditary Spastic Paraplegia

Hereditary spastic paraplegia (HSP) encompasses a group of neurological disorders that involve motor neuron degeneration and currently has no therapeutic treatment. KAND happens to fall into this group of neurological disorders, as variants in the KIF1A gene can lead to patients exhibiting HSP as a clinical symptom. As there is no cure for either HSP or KAND, further research is necessary to understand how to create therapeutics that can treat patients who are affected by these disorders. 

In this review, the authors highlight how HSP genes and proteins are linked to the endolysosomal and autophagic pathways to clarify their functions and interpret the pathological mechanisms that may lead to HSP. The endolysosomal pathway is responsible for the uptake of compounds from the cell’s environment for degradation and controls the localization of proteins in the cell. Shown to be interconnected, the autophagic pathway targets components from inside the cell for degradation and is important for maintaining cellular energy levels. Seeing that there is a relationship between these two pathways, these authors discuss the current understanding of HSP proteins that are directly involved in these processes to help decipher their regulation and organization.

In this thorough article, the authors go into great detail on the many ways that the endolysosomal pathway is altered in HSP disease presentation. Similarly, they discuss the many defects that can occur in the autophagic pathway that can lead to HSP. By making this comprehensive recount, they noticed that there was recurrence of these pathways in neurodegenerative diseases, which suggests that the nervous system is majorly affected by the disruption of these pathways. The review highlights the field’s more current understanding, highlighting opportunities for therapeutic developments for HSP, KAND, and other neurological disorders that are similarly involved. To read more in detail about these pathways’ involvement in HSP, check out the article below! Want to learn more about lysosomes? Enjoy the video below!

Rare Disease News

Gene therapy breakthrough offers hope to children with rare and fatal brain disease

Similar to KAND, Dopamine Transporter Deficiency Syndrome (DTDS) is a rare degenerative brain disorder that currently has no effective treatment and is known to only affect 50 children worldwide. Due to the rarity of the disease, many with DTDS have been misdiagnosed with cerebral palsy or remain undiagnosed. This fatal disease is caused by a disrupted gene that affects brain cells, resulting in infants being unable to walk, speak, and develop normally. In efforts to find a cure, researchers are working to better understand the mechanisms involved in this disease, which has recently allowed them to develop a new precision gene therapy that has the potential to be a treatment.  

In the study, scientists took skin cells from DTDS patients, turned them into stem cells, and used them to test the experimental gene therapy on a laboratory model called ‘disease in a dish’. The data from this showed that the therapy could relieve the disease-related defects in DTDS brain cells, suggesting that the DTDS is cured in a cellular model. Next, researchers tested this therapy in mouse models, which showed success in improving their symptoms of involuntary and disordered movements, progressive parkinsonism, and weight loss. With these promising results, these scientists are looking to move onto the next step of developing clinical trials that would involve DTDS patients. This projection of research into clinical trials is extremely exciting for the rare disease community because it offers hope of an effective treatment for a disorder that initially had no cure. To learn more about this therapy breakthrough and dopamine deficiency, check out the article and video below!

Scientists find genetic cause, underlying mechanisms of new neurodevelopmental syndrome

With the rate of ongoing research progressing at rapid speed, new discoveries are being made about rare diseases and the mechanisms that lead to disease presentation. Recently at the University of North Carolina at Chapel Hill School of Medicine, scientists have identified that variants in the SPTBN1 gene lead to altered neuron shapes, which then significantly affects their function and causes disease. SPTBN1 is a gene that tells neurons and other cells how to make βII-spectrin, a protein with multiple important functions in the nervous system, such as maintaining neuronal structure and enabling normal maintenance and function of neurons. Defects to this gene are shown to cause protein aggregation, impairments in transport across neurons, and changes to the shape of the neurons. Because of this, neurons can no longer connect and communicate correctly, which then leads to patients suffering speech and motor delay and intellectual disability. Now with the genetic cause of this rare disease determined, scientists are looking to gain more information on the molecular and cellular mechanisms of this disease in order to evaluate strategies for potential clinical therapeutics. To read more about this new finding, check out the article below!

“…the advent of affordable gene sequencing technology, together with the creation of databases and networks to facilitate the sharing of information among clinicians and investigators, has vastly accelerated the diagnosis of rare diseases”

Dr. Damaris Lorenzo

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