Publications by authors named "A S Jourdain"
Cytosolic dependent translation supports mitochondrial RNA processing.
Proc Natl Acad Sci U S A
November 2024
Mitochondrial biogenesis relies on both the nuclear and mitochondrial genomes, and imbalance in their expression can lead to inborn errors of metabolism, inflammation, and aging. Here, we investigate N6AMT1, a nucleo-cytosolic methyltransferase that exhibits genetic codependency with mitochondria. We determine transcriptional and translational profiles of and report that it is required for the cytosolic translation of TRMT10C (MRPP1) and PRORP (MRPP3), two subunits of the mitochondrial RNAse P enzyme.
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- The study analyzed stroke trends in patients under 60 in Brest from 2008 to 2018, concluding that despite a general decrease in incidence among older adults, young people experienced a rising trend in ischemic strokes.
- Among the young demographic, significant risk factors included smoking, hypertension, high-alcohol intake, and dyslipidemia.
- The diagnostic approach predominantly included brain imaging and cardiac monitoring, with a notable portion of ischemic strokes being classified as cryptogenic.
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- Diamond-Blackfan Anemia Syndrome (DBS) is a rare condition marked by bone marrow failure and various congenital anomalies, with RPL26 emerging as a key gene associated with it.
- The study involved patients with RPL26 variants, examining blood cell development and RPL26 expression in a patient’s cells.
- Findings indicated that RPL26 is linked to multiple congenital issues, especially radial ray anomalies, and bone marrow failure is not always present in DBS, broadening the understanding of the condition’s spectrum.
Article Synopsis
- The study focuses on Holt-Oram syndrome (HOS), a condition caused by TBX5 gene variants, which lead to heart and limb abnormalities, and highlights the difficulties in predicting the effects of these genomic variants, particularly missense and splice variants.
- Functional tests on various TBX5 variants were conducted to better classify variants of uncertain significance (VUS), leading to the reclassification of 9 out of 14 as likely pathogenic and confirming their involvement in HOS.
- The findings show that bioinformatics and biological tests are essential and work together with clinical knowledge to improve genomic variant classification for rare diseases.
Mitochondrial double-stranded RNA (dsRNA) can form spontaneously in mitochondria, blocking mitochondrial gene expression and triggering an immune response. A recent study by Kim, Tan, et al. identified a safeguard mechanism in which NOP2/Sun RNA methyltransferase 4 (NSUN4)-mediated RNA methylation (mC) recruits the RNA degradation machinery to prevent dsRNA formation.
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