Publications by authors named "Gisela Melcon"
Mutations of lamin A/C (LMNA) cause a wide range of human disorders, including progeria, lipodystrophy, neuropathies and autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD). EDMD is also caused by X-linked recessive loss-of-function mutations of emerin, another component of the inner nuclear lamina that directly interacts with LMNA. One model for disease pathogenesis of LMNA and emerin mutations is cell-specific perturbations of the mRNA transcriptome in terminally differentiated cells.
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- Emery-Dreifuss muscular dystrophy (EDMD1) is linked to mutations in the emerin gene (X-linked) or the lamin A/C gene (autosomal), prompting research to create a mouse model lacking emerin.
- Although these emerin-null mice show no major physical issues, their muscle regeneration exhibits defects, especially in cell cycle processes and delayed muscle cell differentiation linked to transcription factors Rb1 and MyoD.
- In contrast to the emerin-null mice, mice lacking lamin A/C (Lmna null) did not show the same transcriptional pathway disruptions, suggesting that different mutations might influence muscle cell behavior in distinct ways in muscle pathologies.
Acute quadriplegic myopathy (AQM; also called "critical illness myopathy") shows acute muscle wasting and weakness and is experienced by some patients with severe systemic illness, often associated with administration of corticosteroids and/or neuroblocking agents. Key aspects of AQM include muscle atrophy and myofilament loss. Although these features are shared with neurogenic atrophy, myogenic atrophy in AQM appears mechanistically distinct from neurogenic atrophy.
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