Novel DNJ Derivative Ameliorates Cardiac Hypertrophy by Targeting OPA1 and Restoring Mitochondrial Health
Circ Res. 2025 Dec 29. doi: 10.1161/CIRCRESAHA.125.327407. Online ahead of print. ABSTRACT BACKGROUND: Pathological cardiac hypertrophy, an abnormal enlargement of cardiomyocytes and interstitial fibrosis in response to sustained injury or pressure overload, may lead to heart failure or even sudden death. Affected patients often also exhibit myocardial mitochondrial dysfunction and associated structural damage. Discovering more […]
A novel frameshift variant leads to familial osteopetrosis with variable phenotypes in a Chinese Han consanguineous family
BMC Med Genomics. 2025 Feb 24;18(1):36. doi: 10.1186/s12920-025-02101-y. ABSTRACT Osteopetrosis, a group of highly heterogeneous genetic bone disorders, is characterized by deafness, increased bone density, hepatosplenomegaly, pancytopenia and intellectual disability. Osteopetrosis can be divided into three subtypes: autosomal recessive osteopetrosis (ARO), intermediate autosomal recessive osteopetrosis (IARO), and autosomal dominant osteopetrosis (ADO). CLCN7 has been reported […]
Expanding the Phenotypic Spectrum of SPG7 Rare Damaging Variants: Insights From a Hungarian Cohort
Clin Genet. 2025 Aug;108(2):124-133. doi: 10.1111/cge.14719. Epub 2025 Feb 20. ABSTRACT Mitochondria-associated paraplegin dysfunction is primarily linked to spastic paraplegia; however, genetic alterations in SPG7 have been associated with a broader spectrum of clinical symptoms. To identify disease-causing variants in the SPG7 gene, 437 patients with spastic ataxia, mitochondrial dysfunction-associated symptoms, or motoneuron lesions detected […]
If at first you don’t succeed, try, try again
Surv Ophthalmol. 2025 Jul-Aug;70(4):840-844. doi: 10.1016/j.survophthal.2025.01.011. Epub 2025 Feb 14. ABSTRACT A previously healthy 15-year-old Asian boy presented with progressive bilateral painless vision loss, dyschromatopsia, and visual field defects. Optical coherence tomography showed diffuse retinal nerve fiber layer thinning. Work-up including neuroimaging, lab testing for acquired bilateral optic atrophy, extensive mitochondrial and nuclear genetic testing […]
Disruption of mitochondrial homeostasis and permeability transition pore opening in OPA1 iPSC-derived retinal ganglion cells
Acta Neuropathol Commun. 2025 Feb 13;13(1):28. doi: 10.1186/s40478-025-01942-z. ABSTRACT Dominant optic atrophy (DOA) is the most common inherited optic neuropathy, characterised by the selective loss of retinal ganglion cells (RGCs). Over 60% of DOA cases are caused by pathogenic variants in the OPA1 gene, which encodes a dynamin-related GTPase protein. OPA1 plays a key role […]
Frequency and Pattern of Gene Therapy Clinical Trials for Inherited Retinal Diseases
Adv Exp Med Biol. 2025;1468:89-93. doi: 10.1007/978-3-031-76550-6_15. ABSTRACT This study describes worldwide gene therapy clinical trials aimed at treating inherited retinal diseases (IRD). The information was collected through 15 different international registries including clinicaltrials.gov . There have been 101 gene therapy clinical trials targeting IRD up until the end of 2022. Seventy-seven trials employed gene […]
The Heterozygous p.A684V Variant in the WFS1 Gene Is a Mutational Hotspot Causing a Severe Hearing Loss Phenotype
Genes (Basel). 2025 Jan 6;16(1):57. doi: 10.3390/genes16010057. ABSTRACT BACKGROUND/OBJECTIVES: A heterozygous mutation in the WFS1 gene is responsible for autosomal dominant non-syndromic hearing loss (DFNA6/14/38) and Wolfram-like syndrome, which is characterized by bilateral sensorineural hearing loss with optic atrophy and/or diabetes mellitus. However, detailed clinical features for the patients with the heterozygous p.A684V variant remain […]
Derivation and Characterization of Isogenic OPA1 Mutant and Control Human Pluripotent Stem Cell Lines
Cells. 2025 Jan 17;14(2):137. doi: 10.3390/cells14020137. ABSTRACT Dominant optic atrophy (DOA) is the most commonly inherited optic neuropathy. The majority of DOA is caused by mutations in the OPA1 gene, which encodes a dynamin-related GTPase located to the mitochondrion. OPA1 has been shown to regulate mitochondrial dynamics and promote fusion. Within the mitochondrion, proteolytically processed […]
Unraveling the genetic spectrum of inherited deaf-blindness in Portugal
Orphanet J Rare Dis. 2025 Jan 14;20(1):22. doi: 10.1186/s13023-025-03542-5. ABSTRACT BACKGROUND: Syndromic genetic disorders affecting vision can also cause hearing loss, and Usher syndrome is by far the most common etiology. However, many other conditions can present dual sensory impairment. Accurate diagnosis is essential for providing patients with genetic counseling, prognostic information, and appropriate resources. […]
Crouzon Syndrome
2025 May 25. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–. ABSTRACT Crouzon syndrome is a genetically inherited disorder characterized by multiple suture craniosynostosis (premature fusion of the coronal sutures), leading to skull and facial deformities. This condition was first described in 1912 by French physician Octave Crouzon, who identified both a mother […]