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Mitochondrial Mutations in Cardiovascular Diseases: Preliminary Findings.
Genes (Basel)
November 2024
Department of Physiology, Medical School, National and Kapodistrian University of Athens, 11527 Athens, Greece.
Article Synopsis
- Mitochondria are essential for ATP production and energy needs, particularly in cardiac cells that require a lot of energy, making their function crucial for heart health.
- Mitochondrial DNA mutations can disrupt energy production, leading to cardiac dysfunction, and this study aimed to explore the link between these mutations and cardiovascular disease in patients.
- The research identified specific mutations in the mitochondrial DNA of patients undergoing bypass surgery, which may help clarify how mitochondrial dysfunction contributes to coronary artery disease.
Respiratory Chain Complex I Deficiency in Leber Hereditary Optic Neuropathy: Insights from Ophthalmologic and Molecular Investigations in Tunisia.
BMC Genomics
November 2024
Research Laboratory of Human Genome and Multifactorial Diseases, Faculty of Pharmacy, University of Monastir, Street Avicenne, Monastir, 5000, Tunisia.
Background: Leber hereditary optic neuropathy (LHON) is a mitochondrial DNA (mtDNA) rare disease due to the pathogenic variant of the NADH dehydrogenase enzyme. LHON is characterized by a sudden central vision loss due to focal degeneration of the retinal ganglion cell layer and optic nerve. Symptoms usually appear between the age of 18 and 35 years.
View Article and Find Full Text PDFNext-generation marker-free transplastomic plants: engineering the chloroplast genome without integration of marker genes in Solanum tuberosum (potato).
Plant Cell Rep
November 2024
Center for Agricultural Synthetic Biology (CASB), University of Tennessee, 2640 Morgan Circle Dr., Knoxville, TN, 37996, USA.
This study describes an optimized plastid genetic engineering platform to produce full marker-free transplastomic plants with transgene integrated at homoplasmy in one step in tissue culture. Plastid engineering is attractive for both biotechnology and crop improvement due to natural bio-confinement from maternal inheritance, the absence of transgene positional effects and silencing, the ability to express transgenes in operons, and unparalleled production of heterologous proteins. While plastid engineering has had numerous successes in the production of high-value compounds, no transplastomic plants have been approved for use in agriculture.
View Article and Find Full Text PDFA Homoplasmic MT-TV Mutation Associated with Mitochondrial Inheritance of Hereditary Spastic Paraplegia.
Mov Disord
October 2024
Department of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, and Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, China.
Background: Hereditary spastic paraplegia (HSP) is characterized by progressive lower limb weakness and spasticity, with unknown genetic cause in many cases.
Objectives: To identify novel genetic causes of HSP.
Methods: Phenotypic characterization, genetic screening, transcriptome sequencing, and peroneal nerve biopsy were conducted in a Chinese HSP family.
Complete mitochondrial genomes of patients from Thailand with cardiovascular diseases.
PLoS One
July 2024
Department of Biology, Faculty of Science, Khon Kaen University, Khon Kaen, Thailand.
Several previous studies have reported that both variation and haplogroups of mitochondrial (mt) DNA were associated with various kinds of diseases, including cardiovascular diseases, in different populations, but such studies have not been carried out in Thailand. Here, we sequenced complete mtDNA genomes from 82 patients diagnosed with three types of cardiovascular disease, i.e.
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