Publications by authors named "M Pannese"
Article Synopsis
- Facioscapulohumeral muscular dystrophy (FSHD) is a common neuromuscular disorder without a cure, linked to increased expression of the transcription factor DUX4, leading to muscle wasting.
- MATR3, a protein associated with ALS and similar conditions, regulates DUX4 by binding to its DNA-binding domain, which helps protect muscle cells from DUX4's harmful effects.
- Research suggests that a shorter form of MATR3 is effective in blocking DUX4 toxicity, positioning MATR3 as a potential target for FSHD treatment development.
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most prevalent neuromuscular disorders. The disease is linked to copy number reduction and/or epigenetic alterations of the D4Z4 macrosatellite on chromosome 4q35 and associated with aberrant gain of expression of the transcription factor DUX4, which triggers a pro-apoptotic transcriptional program leading to muscle wasting. As today, no cure or therapeutic option is available to FSHD patients.
View Article and Find Full Text PDFIn the last decade, the sequence-specific transcription factor double homeobox 4 (DUX4) has gone from being an obscure entity to being a key factor in important physiological and pathological processes. We now know that expression of DUX4 is highly regulated and restricted to the early steps of embryonic development, where DUX4 is involved in transcriptional activation of the zygotic genome. While DUX4 is epigenetically silenced in most somatic tissues of healthy humans, its aberrant reactivation is associated with several diseases, including cancer, viral infection and facioscapulohumeral muscular dystrophy (FSHD).
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- Aging increases the inflammatory response to peripheral challenges, leading to cognitive and behavioral issues, but studies on how this differs by sex are limited.
- In a study with adult and aged mice, aged female brains exhibited a stronger pro-inflammatory response to a lipopolysaccharide (LPS) challenge compared to adult females and aged males, indicating a sex-specific reaction.
- Findings suggest that neuro-inflammatory responses to peripheral insults are influenced by both age and sex, potentially guiding future research on treatment strategies for age-related conditions like delirium and dementia.
Article Synopsis
- Mutations in the TREM2 gene are linked to increased risk for Alzheimer's disease and Parkinson's disease.
- In a study using a mouse model, the deletion of TREM2 was shown to affect neurodegeneration and microglial activation when exposed to a neurotoxic compound (MPTP).
- Results indicated that TREM2 is crucial for regulating microglial responses to neuronal damage, with TREM2-deficient mice showing altered inflammatory responses and compensatory mechanisms.