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A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction
Assoc Prof Seth Masters has published a paper in Nature Communications - ‘A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction’.
Abstract
MLKL is the essential effector of necroptosis, a form of programmed lytic cell death. We have isolated a mouse strain with a single missense mutation, MlklD139V, that alters the two-helix 'brace' that connects the killer four-helix bundle and regulatory pseudokinase domains. This confers constitutive, RIPK3 independent killing activity to MLKL. Homozygous mutant mice develop lethal postnatal inflammation of the salivary glands and mediastinum. The normal embryonic development of MlklD139V homozygotes until birth, and the absence of any overt phenotype in heterozygotes provides important in vivo precedent for the capacity of cells to clear activated MLKL. These observations offer an important insight into the potential disease-modulating roles of three common human MLKL polymorphisms that encode amino acid substitutions within or adjacent to the brace region. Compound heterozygosity of these variants is found at up to 12-fold the expected frequency in patients that suffer from a pediatric autoinflammatory disease, chronic recurrent multifocal osteomyelitis (CRMO).
Source: The University of Melbourne
veski connection members in the news
Apr 2020 | Royal Society
Prof Jane Visavader, 2018 Victoria Prize for Science & Innovation recipient, elected to the Royal Societyin 2020
“The real benefit of increasing fabrication rates is the transition from prototyping, making one offs, to actually going into production.”
Assoc Prof Timothy Scott
Nov 2019 | Bionics Institute
Dr Thushara Perera, 2016 Victoria Fellow, received the prestigious AMP Foundation’s Tomorrow Fund
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