Mashiat Zaman

Pathogenic Mitofusin 2 variants causing myopathy drive endosomal mtDNA release and inflammation

The paper identifies how pathogenic MFN2 variants cause mtDNA release into endosomes and mitochondrial-derived vesicles, triggering inflammation and myopathy, and suggests a therapeutic strategy using integrated stress response activation.

Characterization of Ataxia-linked MFN2 Variants Reveals a Lipid Droplet/Mitochondrial Axis Driving Ferroptosis

The paper identifies ataxia-linked MFN2 variants that increase ferroptosis susceptibility by enhancing fatty acid import from lipid droplets to mitochondria, leading to lipid peroxidation and cell death.

Drug Repurposing Screen Identifies an HRI Activating Compound that Promotes Adaptive Mitochondrial Remodeling in MFN2-deficient Cells

The paper identifies two compounds that activate the HRI pathway, improving mitochondrial function in MFN2-deficient cells.

The MFN2 Q367H variant reveals a novel pathomechanism connected to mtDNA-mediated inflammation

The paper identifies a novel MFN2 variant, Q367H, linked to mtDNA-mediated inflammation in a patient with distal myopathy, revealing a pathomechanism connecting MFN2 dysfunction to inflammatory signaling.

Pharmacologic Activation of Integrated Stress Response Kinases Inhibits Pathologic Mitochondrial Fragmentation

This study shows that pharmacologic activation of ISR kinases HRI or GCN2 prevents mitochondrial fragmentation in disease models.

A novel variant in MFN2 linked to a lethal disorder of neonatal onset

The paper identifies a novel homozygous MFN2 variant R334K linked to a lethal neonatal disorder and shows it causes severe mitochondrial dysfunction, confirmed through functional studies and Drosophila modeling.

The Ketogenic Diet Metabolite β-Hydroxybutyrate Promotes Mitochondrial Elongation via Deacetylation in HeLa Cells and Improves Autism-like Behavior in Zebrafish

Characterization of a novel variant in the HR1 domain of MFN2 in a patient with ataxia, optic atrophy and sensorineural hearing loss

The paper reports a novel MFN2 variant associated with ataxia, optic atrophy, and sensorineural hearing loss, and shows its functional impact in patient fibroblasts.