Month: June 2020

Human BDNF/TrkB Variants Impair Hippocampal Synaptogenesis and Associate With Neurobehavioural Abnormalities

Takuhiro Sonoyama, Lukas K J Stadler, Mingyan Zhu, Julia M Keogh, Elana Henning, Fuki Hisama, Peter Kirwan, Magdalena Jura, Beata K Blaszczyk, David C DeWitt, Bas Brouwers, Marko Hyvönen, Inês Barroso, Florian T Merkle, Suzanne M Appleyard, Gary A Wayman, I Sadaf Farooqi

Scientific Reports, 2020 Jun 3;10(1):9028.
DOI: 10.1038/s41598-020-65531-x
Pubmed: 32493978


Brain-derived neurotrophic factor (BDNF) signals through its high affinity receptor Tropomyosin receptor kinase-B (TrkB) to regulate neuronal development, synapse formation and plasticity. In rodents, genetic disruption of Bdnf and TrkB leads to weight gain and a spectrum of neurobehavioural phenotypes. Here, we functionally characterised a de novo missense variant in BDNF and seven rare variants in TrkB identified in a large cohort of people with severe, childhood-onset obesity. Continue reading →

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