The gene defective in Huntington's disease encodes a protein, huntingtin, with unknown function. Antisera generated against three separate regions of huntingtin identified a single high molecular weight protein of approximately 320 kDa on immunoblots of human neuroblastoma extracts. The same protein species was detected in human and rat cortex synaptosomes and in sucrose density gradients of vesicle-enriched fractions, where huntingtin immunoreactivity overlapped with the distribution of vesicle membrane proteins (SV2, transferrin receptor, and synaptophysin). Immunohistochemistry in human and rat brain revealed widespread cytoplasmic labeling of huntingtin within neurons, particularly cell bodies and dendrites, rather than the more selective pattern of axon terminal labeling characteristic of many vesicle-associated proteins. At the ultrastructural level, immunoreactivity in cortical neurons was detected in the matrix of the cytoplasm and around the membranes of the vesicles. The ubiquitous cytoplasmic distribution of huntingtin in neurons and its association with vesicles suggest that huntingtin may have a role in vesicle trafficking.

A trinucleotide repeat (CAG) expansion in the huntingtin gene causes Huntington's disease (HD). In brain tissue from HD heterozygotes with adult onset and more clinically severe juvenile onset, where the largest expansions occur, a mutant protein of equivalent intensity to wild-type huntingtin was detected in cortical synaptosomes, indicating that a mutant species is synthesized and transported with the normal protein to nerve endings. The increased size of mutant huntingtin relative to the wild type was highly correlated with CAG repeat expansion, thereby linking an altered electrophoretic mobility of the mutant protein to its abnormal function. Mutant huntingtin appeared in gray and white matter with no difference in expression in affected regions. The mutant protein was broader than the wild type and in 6 of 11 juvenile cases resolved as a complex of bands, consistent with evidence at the DNA level for somatic mosaicism. Thus, HD pathogenesis results from a gain of function by an aberrant protein that is widely expressed in brain and is harmful only to some neurons.

Laboratory classes have consistently played a crucial role in science education for many years. Common to all labs is the need to understand essential lab techniques. Students often lack this foundational understanding, and this can lead to poor performance or confidence (Gallagher et al. 2008).Virtual labs have been found to be effective in promoting active learning and increasing performance (Lewis 2014). In this project, a virtual lab for preparing a phosphate-buffered saline solution (PBS) was created to educate undergraduate biology students on essential laboratory techniques. The virtual lab included animations and interactive elements to visually communicate each step.Content experts provided input on the accuracy of the scientific content throughout development. Focus group testing with biology teaching assistants (TAs) at the University of Illinois at Chicago was conducted to assess the potential effectiveness of the virtual lab.

At the University of Illinois College of Medicine Anesthesiology Research department, lung trauma researchers aimed to generate interest in the importance of the lung endothelial surface layer in inflammation. However, they had difficulty describing the dynamic molecular structure of the lung endothelial surface layer and its role in inflammatory processes in the lung. A 3D animation was created because of its ability to communicate a rich and complex molecular narrative. Prior studies have shown that, for scientific animations, level of expertise of the viewer influences how an animation is perceived. This study aimed to improve lung trauma researchers’ ability to generate interest in their research and to assess if prior knowledge affects how biomedical animations are perceived in terms of engagement by analyzing eye-tracking.