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 […]
Genetic underpinnings explored: OPA1 deletion and complex phenotypes on chromosome 3q29
BMC Med Genomics. 2024 Apr 19;17(1):94. doi: 10.1186/s12920-024-01850-6. ABSTRACT BACKGROUND: Copy number variations (CNVs) have emerged as significant contributors to the elusive genetic causality of inherited eye diseases. In this study, we describe a case with optic atrophy and a brain aneurysm, in which a de novo CNV 3q29 deletion was identified. CASE PRESENTATION: A […]
Short Wavelength Automated Perimetry, Standard Automated Perimetry, and Optical Coherence Tomography in Dominant Optic Atrophy
J Clin Med. 2024 Mar 28;13(7):1971. doi: 10.3390/jcm13071971. ABSTRACT Background: Blue-yellow axis dyschromatopsia is well-known in Autosomal Dominant Optic Atrophy (ADOA) patients, but there were no data on the correlation between retinal structure and short-wavelength automated perimetry (SWAP) values in this pathology. Methods: In this cross-sectional case-control study, we assessed the correlation between best corrected […]
Chinese expert consensus on the clinical diagnosis and treatment of autosomal dominant optic atrophy (2024)
Zhonghua Yan Ke Za Zhi. 2024 Mar 11;60(3):226-233. doi: 10.3760/cma.j.cn112142-20231225-00308. ABSTRACT Autosomal dominant optic atrophy (ADOA) primarily affects retinal ganglion cells and their axons, resulting in varying degrees of central vision loss from childhood. Due to the rarity of ADOA in clinical practice, Chinese ophthalmologists currently lack sufficient understanding of the disease and experience non-standardized […]