Background: The proportion of mutant mtDNA in blood has been found to correlate with the frequency of visual loss in cases with mtDNA mutations associated with Leber hereditary optic neuropathy (LHON), especially in men. We sought to determine this correlation in a Thai population of LHON.
Methods: Densitometric quantification of blood mtDNA with the 11,778 LHON mutation in 137 symptomatic cases and their asymptomatic maternal relatives in 30 Asian pedigree families was performed. Asymptomatic maternal relatives under the age of 16 years were excluded. The visual outcome in symptomatic cases with homoplasmy and heteroplasmy was compared.
Results: Heteroplasmy was detected in eight (12.9%) symptomatic and 30 (40%) asymptomatic individuals. The quantification of blood mutant mtDNA in the eight symptomatic cases ranged from 44% to 93% (mean=75%). The visual outcome of the cases with heteroplasmy was not different from that of cases with homoplasmy. There was a correlation between the proportion of mutant mtDNA and the likelihood of visual loss.
Conclusions: The prevalence of heteroplasmy among pedigrees of the 11,778 LHON mutation in Thailand was similar to that of other Asian populations and may be greater than in 11,778 LHON pedigrees from white backgrounds. The proportion of mutated mtDNA correlated with visual loss, but the effect of heteroplasmy on clinical expression seemed not to relate to gender.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1097/01.wno.0000176631.87234.49 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Tau association with synaptic mitochondria coincides with energetic dysfunction and excitatory synapse loss in the P301S tauopathy mouse model.
Neurobiol Aging
December 2024
University of Nebraska Medical Center, College of Medicine, Department of Neurological Sciences, Omaha, NE, USA. Electronic address:
Neurodegenerative Tauopathies are a part of several neurological disorders and aging-related diseases including, but not limited to, Alzheimer's Disease, Frontotemporal Dementia with Parkinsonism, and Chronic Traumatic Encephalopathy. The major hallmarks present in these conditions include Tau pathology (composed of hyperphosphorylated Tau tangles) and synaptic loss. in vivo studies linking Tau pathology and mitochondrial alterations at the synapse, an avenue that could lead to synaptic loss, remain predominantly scarce.
View Article and Find Full Text PDFThe binuclear cyclopalladated complex CP2 is targeting ubiquinol-cytochrome c reductase (complex III) of Leishmania amazonensis.
Int J Parasitol Drugs Drug Resist
December 2024
São Paulo State University (Unesp), School of Pharmaceutical Sciences, Araraquara, São Paulo, Brazil. Electronic address:
Leishmaniasis is a neglected disease that remains with a limited number of drugs available for chemotherapy and has an increased drug resistance that affects treatment outcomes. Metal-based drugs such as cyclopalladated complex [Pd(dmba)(μ-N)] (CP2), a Leishmania topoisomerase IB inhibitor involved in calcium dysregulation and mitochondrial dysfunction of the parasite, had been an alternative to outline the appearance of chemoresistance. To identify new molecular targets and point out possible resistance mechanisms, a CP2-resistant Leishmania amazonensis (LaR) was selected by stepwise exposure to increasing drug pressure until a line capable of growth in 13.
View Article and Find Full Text PDFFlow-cytometry reveals mitochondrial DNA accumulation in cells during cell cycle arrest.
Front Cell Dev Biol
December 2024
A. N. Belozersky Institute of Physico-Chemical Biology, Lomonosov Moscow State University, Moscow, Russia.
Mitochondria are semi-autonomous organelles containing their own DNA (mtDNA), which is replicated independently of nuclear DNA (nDNA). While cell cycle arrest halts nDNA replication, mtDNA replication continues. In , flow cytometry enables semi-quantitative estimation of mtDNA levels by measuring the difference in signals between cells lacking mtDNA and those containing mtDNA.
View Article and Find Full Text PDFIdentification of G protein subunit alpha i3 as a promising oncotarget of LUAD.
Cell Signal
December 2024
Department of Thoracic Surgery, The First Affiliated Hospital of Soochow University, Suzhou, China; Institute of Thoracic Surgery, The First Affiliated Hospital of Soochow University, Suzhou, China. Electronic address:
Exploring new oncotargets essential for lung adenocarcinoma (LUAD) cell growth is important. Here the bioinformatical studies revealed that Gαi3 expression is elevated in LUAD tissues and its overexpression correlates with poor survival of the patients. Moreover, overexpression of Gαi3 mRNA and protein was detected in LUAD tissues of patients as well as in primary/immortalized LUAD cells.
View Article and Find Full Text PDFDysfunctional copper homeostasis in affects genomic and neuronal stability.
Redox Biochem Chem
December 2024
Food Chemistry with Focus on Toxicology, Faculty of Mathematics and Natural Sciences, University of Wuppertal, Germany.
While copper (Cu) is an essential trace element for biological systems due to its redox properties, excess levels may lead to adverse effects partly due to overproduction of reactive species. Thus, a tightly regulated Cu homeostasis is crucial for health. Cu dyshomeostasis and elevated labile Cu levels are associated with oxidative stress and neurodegenerative disorders, but the underlying mechanisms have yet to be fully characterized.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!