Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Leigh syndrome is the most common phenotype of mitochondrial disorders in children. This study demonstrates clinical, neuroradiological, and molecular genetic findings in siblings with Leigh syndrome and isolated complex I assembly defect associated with intronic c.16 + 5G > A variant in the NDUFS7 gene. Whole exome sequencing was carried out to identify the causative variant. The gene and protein expression of NDUFS7 were studied using patient-derived fibroblasts. Assembly of mitochondrial respiratory chain enzymes was analyzed using Blue Native PAGE. This study shows that the NDUFS7 c.16 + 5G > A variant (rs375282422) has a causative role in Leigh syndrome. Evolution of neuroimaging findings related to this gene variant are demonstrated.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.mito.2025.102007 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Identifying physical health concerns of people with a mental health condition: an RCT.
Am J Prev Med
September 2025
School of Psychological Sciences, University of Newcastle, Callaghan, NSW, Australia; Hunter Medical Research Institute, Clinical Research Centre, New Lambton Heights, NSW, Australia.
Introduction: PhysiCards© have been co-designed to support an interactive, person-led approach to help people with mental health conditions identify and respond to cardiovascular disease (CVD) and other physical health concerns. This study aimed to test the efficacy of the PhysiCards© in assisting people accessing support from a mental health community managed organisation to identify and take action to address CVD and other physical health concerns.
Study Design: Parallel-group randomised controlled trial.
Improved AAV9-based gene therapy design for -related Leigh syndrome with minimal toxicity.
Mol Ther Methods Clin Dev
September 2025
Department of Pediatrics, UT Southwestern Medical Center, Dallas, TX 75390, USA.
Surfeit locus protein 1 (SURF1)-related Leigh syndrome is an early-onset neurodegenerative disorder characterized by a reduction in complex IV activity that disrupts mitochondrial function. Currently, there are no disease-modifying treatments available. Previously, we reported that a gene replacement therapy for -related Leigh syndrome was developed, which showed improved complex IV activity and restored exercise-induced lactate acidosis, as well as a high safety profile in wild-type (WT) mice.
View Article and Find Full Text PDFBrain Atrophy Does Not Predict Clinical Progression in Progressive Supranuclear Palsy.
Mov Disord
August 2025
Department of Neurology, University Hospital, LMU Munich, Munich, Germany.
Background: Clinical progression rate is the typical primary endpoint measure in progressive supranuclear palsy (PSP) clinical trials.
Objectives: This longitudinal multicohort study investigated whether baseline clinical severity and regional brain atrophy could predict clinical progression in PSP-Richardson's syndrome (PSP-RS).
Methods: PSP-RS patients (n = 309) from the placebo arms of clinical trials (NCT03068468, NCT01110720, NCT02985879, NCT01049399) and DescribePSP cohort were included.
Efficacy and Safety of 5-Aminolevulinic Acid Hydrochloride Combined with Sodium Ferrous Citrate in Pediatric Patients with Leigh Syndrome and Central Nervous System Disorders: An Initial Exploratory Trial with a Double-Blind Placebo-Controlled Period, Followed by an Open-Label Period and a Subsequent Long-Term Administration Study.
Life (Basel)
July 2025
Department of Pediatrics, Saitama Medical University Hospital, Moroyama, Saitama 350-0495, Japan.
An explorative study was conducted to evaluate the efficacy and safety of 5-aminolevulinic acid hydrochloride combined with sodium ferrous citrate (SPP-004) in 10 pediatric patients with Leigh syndrome (LS) aged 3-24 months in 10 institutions between December 2014 and July 2019. The patients were randomized and allocated to the SPP-004 or placebo group for a 12-week double-blind period, followed by a 12-week open-label period with SPP-004 and then a long-term study of up to 180 weeks. The efficacy and safety were evaluated using the Newcastle Pediatric Mitochondrial Disease Scale (NPMDS) and adverse events (AEs), respectively.
View Article and Find Full Text PDFMultiomic clocks to predict phenotypic age in mice.
J Gerontol A Biol Sci Med Sci
August 2025
Blavatnik Institute, Dept. of Genetics, Paul F. Glenn Center for Biology of Aging Research at Harvard Medical School, Boston, MA 02115 USA.
Biological age refers to a person's overall health in aging, as distinct from their chronological age. Diverse measures of biological age, referred to as "clocks", have been developed in recent years and enable risk assessments, and an estimation of the efficacy of longevity interventions in animals and humans. While most clocks are trained to predict chronological age, clocks have been developed to predict more complex composite biological age outcomes, at least in humans.
View Article and Find Full Text PDF