AI Article Synopsis
- Three mutations in mitochondrial DNA complex I genes are linked to over 90% of Leber hereditary optic neuropathy (LHON) cases in Europe, with a study of Polish patients revealing a family carrying two specific mutations.
- Four affected brothers lost their vision around age 20, while their stepbrother experienced later onset at age 33, with no additional neurological symptoms present in the family.
- This rare combination of double LHON mutations, occurring in a common haplogroup H background, has not been previously documented in existing literature.
Article Abstract
Three mutations in mitochondrial DNA complex I genes are responsible for over 90% of Leber hereditary optic neuropathy (LHON) cases in Europe. A family with two LHON mutations--practically homoplasmic 11778G>A and varying levels of 3460G>A--was found during analysis of Polish patients. DNA and visual acuity was analyzed in four affected brothers and their unaffected sister and mother as well as in their step brother. Four male patients experienced vision loss around the age of 20 while for their step brother the onset was late--at the age of 33. No additional neurological symptoms were observed and both women were completely asymptomatic. The mutation occurred in a haplogroup H background, the most common one in both the Polish population and among patients. Double LHON mutations are extremely rare, and this particular combination has not been previously described in the literature.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.mito.2008.08.002 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Preventive maintenance in urban public transport: the role of engine oil analysis.
Sci Rep
December 2024
Department of Power Engineering and Transportation, University of Life Sciences in Lublin, Gleboka 28, 20-612, Lublin, Poland.
Engine oil is a valuable source of information on the technical condition of the drive unit. Under the influence of many factors, including operating conditions, time, high temperature, and various types of contamination, the oil gradually degrades, which can result in serious engine damage. The subject of the article focuses on an attempt to answer the questions of how engine failure affects the degradation of engine oil and whether we can use this knowledge to detect potential problems in public transport vehicles at an early stage.
View Article and Find Full Text PDFIn Saccharomyces cerevisiae cells, the bulk of mitochondrial DNA (mtDNA) replication is mediated by the replicative high-fidelity DNA polymerase γ. However, upon UV irradiation low-fidelity translesion polymerases: Polη, Polζ and Rev1, participate in an error-free replicative bypass of UV-induced lesions in mtDNA. We analysed how translesion polymerases could function in mitochondria.
View Article and Find Full Text PDFImmunogenicity and protective efficacy of recombinant chimeric antigens based on surface proteins of .
Front Immunol
December 2024
Department of Molecular Microbiology, Institute of Microbiology, Biotechnology and Immunology, Faculty of Biology and Environmental Protection, University of Lodz, Lodz, Poland.
Introduction: Toxoplasmosis is caused by the opportunistic, cosmopolitan protozoan is one of the most common parasitoses in the world. This parasite can pose a threat to people with immunodeficiency but also to the fetus, since the invasion can lead to miscarriages. Moreover, this parasite can contribute to economic losses in livestock farming.
View Article and Find Full Text PDFBackground: Measuring palliative care quality requires the application of evaluation methods to compare clinically meaningful groups of patients across different settings. Such protocols are currently lacking in Poland. The Australian Palliative Care Outcome Collaboration (PCOC) concept of Palliative phases precisely defines patients, enables episodes of care extraction for benchmarking and further assessment of service delivery.
View Article and Find Full Text PDFExploiting lipid droplet metabolic pathway to foster lipid production: oleosin in focus.
Plant Cell Rep
December 2024
National Agri-Food and Biomanufacturing Institute (NABI), Sector 81, Knowledge City, S.A.S. Nagar, Mohali, Punjab, 140306, India.
In the past decade, there has been an emerging gap between the demand and supply of vegetable oils globally for both edible and industrial use. Lipids are important biomolecules with enormous applications in the industrial sector and a major source of energy for animals and plants. Hence, to elevate the lipid content through metabolic engineering, new strategies have come up for triacylglycerol (TAG) accumulation and in raising the lipid or oil yield in crop plants.
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!