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Topic review
Updated time: 24 Mar 2021
Submitted by: Daniela Sorriento
Definition: Fabry disease (FD) is a lysosomal storage disorder, depending on defects in alpha-galactosidase A (GAL) activity. At the clinical level, FD shows a high phenotype variability. Cardiovascular dysfunction is often recurrent or, in some cases, is the sole symptom (cardiac variant) representing the leading cause of death in Fabry patients. Cardiac dysfunction is dependent on globotriaosylceramide (Gb3) accumulation in the heart but several other mechanisms are involved, such as inflammation and mitochondrial dysfunction, that could become useful targets for therapeutics.
Entry Collection : Rare Monogenic Diseases
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Topic review
Updated time: 30 Apr 2021
Submitted by: Sara Tucci
Definition: Mitochondria are the powerhouse of the cells, generating up to 90% of the energy within a cell in the form of adenosine triphosphate (ATP). There is a close connection between fatty acid metabolism and mitochondria, involving a considerable number of cellular processes that go well beyond mitochondrial fatty acid metabolism. Fatty acids are essential for ATP and energy production, and are therefore highly relevant in the regulation of energy homeostasis. The processes of β-oxidation, linked to ATP production, and mitochondrial fatty acid biosynthesis (mtFAS) are both localized in the mitochondria. This last pathway, in particular, produces molecules that are used as cellular structural components for post-translational modifications of proteins and in signaling cascades.
Entry Collection : Rare Monogenic Diseases
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Topic review
Updated time: 11 May 2021
Submitted by: Nabila Jabrane-Ferrat
Definition: Endosome-derived small extracellular vesicles (EVs), often referred to as exosomes, are produced by almost all, if not all, cell types, and are critical for intercellular communication. They are composed of a lipid bilayer associated with membrane proteins and contain a payload of lipids, proteins and regulatory RNAs that depends on the parental cell physiological condition. By transferring their “cargo”, exosomes can modulate the phenotype of neighboring and distant cells. Stem cells (SC) were widely studied for therapeutic applications regarding their regenerative/reparative potential as well as their immunomodulatory properties. Whether from autologous or allogeneic source, SC beneficial effects in terms of repair and regeneration are largely attributed to their paracrine signaling notably through secreted EVs. Subsequently, SC-derived EVs have been investigated for the treatment of various diseases, including inflammatory skin disorders, and are today fast-track cell-free tools for regenerative/reparative strategies.
Entry Collection : Rare Monogenic Diseases
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