A Qualitative Phenomenological Exploration of the Experiences of Individuals with Parkinson’s Disease Engaged in a Boxing Program

Boxing has emerged as a beneficial form of physical activity (PA) for individuals with Parkinson’s disease (PD). Research typically emphasizes the physical benefits of boxing for individuals with PD but neglects other aspects that could promote long-term engagement in such programs. This study qualitatively explored the experiences of individuals with PD who are engaged in a boxing program. A qualitative phenomenological methodology was utilized. Twelve participants took part in a semi-structured interview. Data were thematically analyzed. Analysis revealed that participants experienced a variety of physical, social, and psychological aspects. Findings suggest that participants perceived increases in physical abilities and concentration through prolonged engagement in the program and social support upon recently joining the program. Other themes were also uncovered such as coming out of isolation, relatedness, escapism, and sense of accomplishment. The knowledge generated from this study can be valuable for health professionals seeking to design and implement specialized PA programs to improve the health of individuals with PD

SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in disease

Abstract The interplay between 3D chromatin architecture and gene silencing is incompletely understood. Here, we report a novel point mutation in the non-canonical SMC protein SMCHD1 that enhances its silencing capacity at endogenous developmental targets. Moreover, it also results in enhanced silencing at the facioscapulohumeral muscular dystrophy associated macrosatellite-array, D4Z4, resulting in enhanced repression of DUX4 encoded by this repeat. Heightened SMCHD1 silencing perturbs developmental Hox gene activation, causing a homeotic transformation in mice. Paradoxically, the mutant SMCHD1 appears to enhance insulation against other epigenetic regulators, including PRC2 and CTCF, while depleting long range chromatin interactions akin to what is observed in the absence of SMCHD1. These data suggest that SMCHD1’s role in long range chromatin interactions is not directly linked to gene silencing or insulating the chromatin, refining the model for how the different levels of SMCHD1-mediated chromatin regulation interact to bring about gene silencing in normal development and disease

SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in disease.

The interplay between 3D chromatin architecture and gene silencing is incompletely understood. Here, we report a novel point mutation in the non-canonical SMC protein SMCHD1 that enhances its silencing capacity at endogenous developmental targets. Moreover, it also results in enhanced silencing at the facioscapulohumeral muscular dystrophy associated macrosatellite-array, D4Z4, resulting in enhanced repression of DUX4 encoded by this repeat. Heightened SMCHD1 silencing perturbs developmental Hox gene activation, causing a homeotic transformation in mice. Paradoxically, the mutant SMCHD1 appears to enhance insulation against other epigenetic regulators, including PRC2 and CTCF, while depleting long range chromatin interactions akin to what is observed in the absence of SMCHD1. These data suggest that SMCHD1's role in long range chromatin interactions is not directly linked to gene silencing or insulating the chromatin, refining the model for how the different levels of SMCHD1-mediated chromatin regulation interact to bring about gene silencing in normal development and disease