Hereditary Spastic Paraplegia (HSP) is a group of inherited neurodegenerative disorders caused by axonal degeneration of the cortical motor neurons. HSP affects around two out of 100,000 people worldwide. Symptoms of HSP involve spasticity, numbness and tingling sensations in the lower limb muscles. The most common recessive form of HSP, Spastic Paraplegia Type 15 (SPG15), represents 2-4% of HSP cases. SPG15 is correlated with mutations in the ZFYVE26 gene, potentially leading to lysosomal dysfunction in cortical motor neurons, resulting in mitochondrial impairment and consequent axonal degeneration. However, the challenges of acquiring patient neurons require the application of induced pluripotent stem cells (iPSCs). iPSCs provide an innovative approach to studying patient-specific mutations and disease phenotypes. This study aims to determine the pluripotency of SPG15 iPSCs derived from patient-specific fibroblasts, serving as the first crucial step in deriving stem cell models that can later be used to test for inhibitors of axonal degeneration. Following the generation of SPG15 iPSCs from patient-specific fibroblasts, we tested both samples for multiple genes and protein expressions using regular PCR, qPCR and immunostaining. The results of [which test?] indicate that the iPSC sample had elevated levels of the pluripotent genes NANOG, OCT4 and SOX2, as well as pluripotent proteins, OCT4, SSEA4, NANOG and SOX2 in comparison to the initial patient fibroblast samples. In parallel, the expression of fibroblast gene FGF5 in the iPSCs was reduced to about 0.21% of its initial expression in fibroblast cells from the Student’s t-test. The confirmation of cell pluripotency makes the SPG15 iPSCs suitable for future studies to characterize differentiated SPG15 cortical motor neurons and analyze the effects of HSP SPG15 treatments on neural cells.

When it comes to the medical field, 3D modeling has previously been used to render anatomical images in greater detail in order to better understand bodily functions. Lately, however, 3D modeling has made waves in depicting diseases, with a focus on their severity and progression. Unlike a model depicting computer graphics, 3D culture models allow cells to interact in three dimensions and better display cell growth and movement, according to the Food and Drug Administration. Culture models are beneficial in replicating the complexities of disease by promoting interactions between cells and providing insight into potential solutions. In this issue of the Journal of Young Investigators, Priscilla Detwieler and her colleagues demonstrate that atelocollagen incorporated in a 3D model is shown to simulate a potential treatment for inflammation-induced osteoarthritis.  

To combat the harmful effects of stress, neuroscientists are pointing to mindfulness, defined as the practice of being fully present and aware of our external environment and our actions, while not being overly reactive or overwhelmed by external events. To shed light on this, JYI interviewed renowned neuroscientist Dr. Alexandra Fiocco, whose expertise lies at the intersection of mindfulness, stress, and cognitive aging. Dr. Fiocco currently does research at Stress and Healthy Aging Research (StAR) Lab and teaches at Toronto Metropolitan University.