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BNA 2023 | Unveiling the molecular mechanisms of cognitive impairment in Duchenne muscular dystrophy

Joanna Pomeroy, PhD Candidate, University of Portsmouth, Portsmouth, UK, presented her research looking at the molecular mechanisms underlying cognitive impairment in individuals with Duchenne muscular dystrophy (DMD) at the BNA conference 2023. DMD is characterized by cognitive impairment and neuropsychological abnormalities. It is caused by the loss of the dystrophin protein, one isoform of which is found specifically in the cerebellar Purkinje cells. Since the cerebellum plays a crucial role in cognitive functions like short-term memory, working memory, and verbal memory, the study will specifically focus on examining the cerebellum. Ms Pomeroy’s research also considers the role of the cerebrum, as it develops after the cerebellum and is known to compensate for cerebellar functions. RNA sequencing will be used to identify significantly differentially expressed transcripts and therefore, the pathways implicated in cognitive impairment. DMD is primarily a muscle wastage disease driven by chronic inflammation. Considering the leaky blood-brain barrier observed in individuals with DMD, it is possible that chronic inflammatory mediators can cross into the brain, leading to neuroinflammation and subsequent cognitive impairment. Ms Pomeroy aims to determine the extent to which cognitive impairment in DMD is secondary to muscular inflammation or directly caused by the absence of dystrophin in the cortex and cerebellum.

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