Journal article

Relevance of a Truncated PRESENILIN 2 Transcript to Alzheimer's Disease and Neurodegeneration

Seyyed Hani Moussavi Nik, Tenielle Porter, Morgan Newman, Benjamin Bartlett, Imran Khan, Miheer Sabale, Melissa Eccles, Amy Woodfield, David Groth, Vincent Dore, Victor L Villemagne, Colin L Masters, Ralph N Martins, Simon M Laws, Michael Lardelli, Giuseppe Verdile



BACKGROUND: The PRESENILIN genes (PSEN1, PSEN2) encoding for their respective proteins have critical roles in many aspects of Alzheimer's disease (AD) pathogenesis. The PS2V transcript of PSEN2 encodes a truncated protein and is upregulated in AD brains; however, its relevance to AD and disease progression remains to be determined. OBJECTIVE: Assess transcript levels in postmortem AD and non-AD brain tissue and in lymphocytes collected under the Australian Imaging Biomarker and Lifestyle (AIBL) study. METHODS: Full length PSEN2 and PS2V transcript levels were assessed by quantitative digital PCR in postmortem brain tissue (frontal cortex and hippocampus) from control, AD, frontotemporal deme..

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Awarded by National Health and Medical Research Council (NHMRC)

Awarded by Cooperative Research Centre (CRC) for Mental Health

Funding Acknowledgements

This work was supported by grant funding from the National Health and Medical Research Council (NHMRC), (GNT1045507) awarded to G.V. and M.L. Funding for the AIBL study was provided in part by the study partners [Commonwealth Scientific Industrial and research Organisation (CSIRO), Edith Cowan University (ECU), Mental Health Research Institute (MHRI), support from the NHMRC and the Dementia Collaborative Research Centres program (DCRC2), as well as funding from the Science and Industry Endowment fund (SIEF) and the Cooperative Research Centre (CRC) for Mental Health-funded through the CRC program (Grant ID:20100104) an Australian Initiative. We thank all the investigators within the AIBL who contributed to the design and implantation of the resource and/or provided data but did not participate in the analysis or writing of this report. A complete list of AIBL investigators can be found at thank all the participants that took part in the AIBL study, for their commitment and dedication to helping advance research into early detection and causation of AD.