The Balance of MFN2 and OPA1 in Mitochondrial Dynamics, Cellular Homeostasis, and Disease
Biomolecules. 2025 Mar 18;15(3):433. doi: 10.3390/biom15030433. ABSTRACT Mitochondrial dynamics, governed by fusion and fission, are crucial for maintaining cellular homeostasis, energy production, and stress adaptation. MFN2 and OPA1, key regulators of mitochondrial fusion, play essential roles beyond their structural functions, influencing bioenergetics, intracellular signaling, and quality control mechanisms such as mitophagy. Disruptions in these processes, […]
Correlation between quality of vision and clinical and structural parameters in patients with Autosomal Dominant Optic Atrophy
Eye (Lond). 2025 Mar 26. doi: 10.1038/s41433-025-03762-w. Online ahead of print. ABSTRACT BACKGROUND: Autosomal Dominant Optic Atrophy (ADOA) is a hereditary condition caused by mutations in the OPA1 gene, leading to progressive degeneration of the optic nerve fibres and subsequent visual decline. Despite advances in understanding its genetic and clinical aspects, the impact of ADOA […]
Targeting OPA1 protein for therapeutic intervention in autosomal dominant optic atrophy: In silico drug discovery
J Mol Graph Model. 2025 Mar 17;138:109013. doi: 10.1016/j.jmgm.2025.109013. Online ahead of print. ABSTRACT Autosomal dominant hereditary optic atrophy (ADOA) is a prevalent hereditary condition characterized by the gradual and simultaneous deterioration of vision. Mutations in Optic atrophy 1 (OPA1) have been linked to ADOA, the prevailing form of inherited optic neuropathy. However, the current […]
Clinical and Structural Parameters in Autosomal Dominant Optic Atrophy Patients: A Cross-Sectional Study Using Optical Coherence Tomography
J Neuroophthalmol. 2024 Nov 14. doi: 10.1097/WNO.0000000000002294. Online ahead of print. ABSTRACT BACKGROUND: Autosomal Dominant Optic Atrophy (ADOA) is a hereditary optic neuropathy characterized by retinal ganglion cell degeneration and optic nerve fiber loss. This study examined the correlation between clinical and structural parameters in patients with ADOA using optical coherence tomography (OCT) and explored […]
OPA1 and disease-causing mutants perturb mitochondrial nucleoid distribution
Cell Death Dis. 2024 Nov 30;15(11):870. doi: 10.1038/s41419-024-07165-9. ABSTRACT Optic atrophy protein 1 (OPA1) mediates inner mitochondrial membrane (IMM) fusion and cristae organization. Mutations in OPA1 cause autosomal dominant optic atrophy (ADOA), a leading cause of blindness. Cells from ADOA patients show impaired mitochondrial fusion, cristae structure, bioenergetic function, and mitochondrial DNA (mtDNA) integrity. The […]
Serendipitous Conversion of an Acetylamino Dideoxy-Octonic Acid Derivate into a Functionalized Carbohydrate-Pyrazole Conjugate and Investigation of the Method´s General Applicability
Molecules. 2024 Oct 15;29(20):4885. doi: 10.3390/molecules29204885. ABSTRACT By treatment of the peracetylated methylester of 4-acetylamino-2,4-dideoxy-d-glycero-d-galacto-octonic acid (ADOA-PAE) with nitrosyl tetrafluoroborate, a serendipitous formation of a highly functionalized carbohydrate-pyrazole conjugate was observed in 95% yield. This observation is remarkable, as it involves a five-step one-pot synthesis that proceeds via an 1,3-acyl shift and a 1,5-electrocyclization, which […]
Antisense Oligonucleotide STK-002 Increases OPA1 in Retina and Improves Mitochondrial Function in Autosomal Dominant Optic Atrophy Cells
Nucleic Acid Ther. 2024 Sep 12. doi: 10.1089/nat.2024.0022. Online ahead of print. ABSTRACT Autosomal dominant optic atrophy (ADOA) is an inherited optic neuropathy most frequently associated with OPA1 mutations. Most variants result in haploinsufficiency, and patient cells express roughly half of the normal levels of OPA1 protein. OPA1 is a mitochondrial GTPase that is essential […]
Creation of an Isogenic Human iPSC-Based RGC Model of Dominant Optic Atrophy Harboring the Pathogenic Variant c.1861C>T (p.Gln621Ter) in the OPA1 Gene
Int J Mol Sci. 2024 Jun 30;25(13):7240. doi: 10.3390/ijms25137240. ABSTRACT Autosomal dominant optic atrophy (ADOA) is a rare progressive disease mainly caused by mutations in OPA1, a nuclear gene encoding for a mitochondrial protein that plays an essential role in mitochondrial dynamics, cell survival, oxidative phosphorylation, and mtDNA maintenance. ADOA is characterized by the degeneration […]
Targeting DRP1 with Mdivi-1 to correct mitochondrial abnormalities in ADOA plus syndrome
JCI Insight. 2024 Jun 25:e180582. doi: 10.1172/jci.insight.180582. Online ahead of print. ABSTRACT Autosomal dominant optic atrophy plus (ADOA+) is characterized by primary optic nerve atrophy accompanied by a spectrum of degenerative neurological symptoms. Despite ongoing research, no effective treatments are currently available for this condition. Our study provided evidence for the pathogenicity of an unreported […]
Identifying therapeutic compounds for autosomal dominant optic atrophy (ADOA) through screening in the nematode C. elegans
Methods Cell Biol. 2024;188:89-108. doi: 10.1016/bs.mcb.2024.04.004. Epub 2024 May 24. ABSTRACT Autosomal Dominant Optic Atrophy (ADOA) is a rare neurodegenerative condition, characterized by the bilateral loss of vision due to the degeneration of retinal ganglion cells. Its primary cause is linked to mutations in OPA1 gene, which ultimately affect mitochondrial structure and function. The current […]