Publications by authors named "O Marmontel"
Mobile elements (ME) can transpose by copy-and-paste mechanisms. A heterozygous insertion in APOB exon 3 coding sequence was suspected in a patient with hypobetalipoproteinemia (HBL), by gel electrophoresis of the PCR products. An insertion of a 85 bp fragment flanked by a polyA stretch and a target replication site duplication was identified as a ME insertion (MEI) from the AluYa5 subfamily, NM_000384.
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- PCSK9 is crucial for regulating LDL-cholesterol and certain variants, like p.Ser127Arg, lead to higher cholesterol levels and are mainly found in France, with few in South Africa and Norway due to a common ancestor effect.
- The study analyzed 14 p.Ser127Arg carriers from eight families and compared them with other variants to understand their genetic background and health impact.
- Results indicated that the common ancestor lived about 775 years ago, and carriers of p.Ser127Arg had significantly higher LDL-C levels, suggesting it may have a stronger effect on cholesterol levels compared to other mutations.
Article Synopsis
- - The study focuses on dysbetalipoproteinemia (DBL), a lipid disorder linked to cardiovascular disease risk, especially in individuals with the ε2ε2 genotype, and evaluates the effectiveness of nine different screening algorithms, including a new one developed by the researchers.
- - Patients were classified into three groups based on their genetic background and the diagnostic performance of the algorithms was assessed against a gold standard of specific triglyceride levels and genotypes.
- - The findings indicate that the "Hospices Civils de Lyon (HCL) algorithm" demonstrated superior diagnostic ability for detecting DBL in both ε2ε2 and rare variant carriers compared to other algorithms, highlighting the need for further investigation into the accuracy of these screening methods.