Identifying the molecular pathways that drive retinal degeneration in the childhood neurodegenerative disease: Mucolipidosis Type IV

Humans, like many other vertebrates, possess five Aristotelian senses (vision, olfaction, hearing, taste, and touch) which we use to experience and navigate our environment. Our visual system is the only source of light detection and light signaling in our bodies. This makes our visual system essential for detecting movement, distance, time of day, and seasonal changes in the length of days within our environment. The visual systems of most animals are designed to capture photons of visible light and convert that energy into a neurological signal (visual signal) to be transmitted to brain regions responsible for visual perception1 . This visual signaling allows animals to navigate and respond to any immediate changes or threats in their environment. In addition, visual signaling to the brain also regulates many non-image forming involuntary behaviors. For example, humans are able to entrain some behavioral and physiological activity to the day/night cycles. Activities such as sleep, melatonin biosynthesis, heart rate, and body temperature all rely on visual input to modify their activity in accordance with day/night light cycles1 . In this way our visual system broadly affects our daily activities and the efficiency at which we perform those activities. Recent estimates suggest that 4.2 million Americans over the age of 40 suffer from an uncorrectable visual impairment2,3. In addition, it was estimated that 2.2 million children and adults under the age of 40 suffer from uncorrectable vision loss, including blindness4 . The identification of this population and the understanding that the number of individuals with these conditions will continue to increase as our population continues to age. It is imperative that new models for treatment are developed to promote better prognosis and restore function within this population. Our lab is interested in describing the molecular mechanisms that underlie photoreceptor cell death and vision loss within a retinal degenerative disease, Mucolipidosis type IV (MLIV). Uncovering the mechanisms that result in photoreceptor x pathogenesis can lead to developing novel target therapeutic approaches to rescue the loss of visual function