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Prix Alexandre Joannidès 2014 Académie des sciences : Irwin DAVIDSON
The expression of genes involved in energetic metabolism regulation in muscles is decreased (blue) in Ts3Yah mice (trisomy) and increased (red) in Ms3Yah mice (monosomy) compared to wt mice (disomy). This leads to a decrease in the number of oxidative fibers (colored fibers) and mitochondria (arrows) in the skeletal muscles of trisomic mice, and an increase of oxidative fibers and mitochondria in the skeletal muscles of monosomic mice.
April 21, 2015
The trisomy of human chromosome 21, or Down syndrome, is the most common intellectual disability and leads also to locomotor deficits and altered muscle tone.
To search for genes involved in trisomy 21, the team of Yann Hérault at the IGBMC selected a specific segment of the chromosome 21 (Hspa13-App, normally present in two copies) and created two new mouse models, one with three copies (trisomy), the other with a single copy (monosomy).
This study, published March 24 2015 in PLOS Genetics, reveals that trisomy and monosomy of this region alter the muscle tone in an opposite way and, in skeletal muscles, the regulation of genes involved in energetic metabolism and mitochondrial activity. Researchers demonstrated that the shift in muscle metabolism correlates with a change in mitochondrial proliferation (increased in monosomy, decreased in trisomy).
Thus, this study demonstrated that the studied region (Hspa13-App) intervenes in mitochondrial and metabolic control of skeletal muscles and certainly participates to the hypotonia which is observed in trisomy 21.
The embryonic formation of the cardiac valves allows the blood flow to favor little by little a one-way circulation.
The expression level of the gene klf2a and the formation of the cardiac valves depend on flow oscillations intensity that induce an increase in intracellular Ca+ rates via Trpv4 and Trpp2 ionic channels.
May 12, 2015
The team of Julien Vermot at IGBMC has evidenced how the mechanical forces generated by blood flows activate the embryonic cardiac valves formation. They show that force sensing is mediated by two transient receptor channel, Trpv4 and Trpp2 (or PC2).
Cardiac valves anomalies are among the most frequent human cardiovascular system anomalies and abnormal valve are usually replaced by valve transplantation directly in the patient.
These results lead to a better understanding of the contribution of mechanical forces during cardiac morphogenesis and might contribute to optimize in vitro valves formation.
These results are published on May 7th, 2015 in the Current Biology.
Example of 3D elements revealed in the atomic structure of the full human ribosome (80S). The high resolution (in the Angstrom range, Å, i.e. 0.1 nanometer) allows discrimination between elements interacting or not.
April 22, 2015
The team of Bruno Klaholz, at IGBMC reveals the atomic 3D structure of the full human ribosome and its fine interactions, notably between RNAs and proteins, the human’s molecular machinery catalyzing protein biosynthesis.
These outstanding findings provide unprecedented insights into the structure and the dynamics of the full human ribosome and pave the way for new major explorations like analyzing antibiotic side-effects or, in the long term, the treatment of diseases related to ribosome’s dysfunction and deregulated protein synthesis, including cancer.
These results are published April 22th, 2015 in Nature.
The protein SET plays a key role in DNA repair and inhibits excessive DNA recombination by controlling chromatin structure through its interaction with the proteins KAP1 and HP1.
March 26, 2015
The team of Evi Soutoglou at IGBMC discovered the protein SET as a novel player in repair of lesions occurring at both strands of DNA. They showed that SET inhibits excessive DNA repair by recombination by controlling chromatin structure through its interaction with the proteins KAP1 and HP1. Cancerous cells where SET is over abundant have decreased capacity to repair DNA lesions and they are sensitive to chemotherapeutic agents, like derivatives of camptothecin.
These results are published March 26, 2015 in Cell Reports.