Down syndrome is the most common chromosomal disorder affecting the nervous system in humans. To date, investigations of neural anomalies in Down syndrome have focused on the central nervous system, although dysfunction of the peripheral nervous system is a common manifestation. The molecular and cellular bases underlying peripheral abnormalities have remained undefined.
Researchers report the developmental loss of sympathetic innervation in human Down syndrome organs and in a mouse model.
They show that excess regulator of calcineurin 1 (RCAN1), an endogenous inhibitor of the calcineurin phosphatase that is triplicated in Down syndrome, impairs neurotrophic support of sympathetic neurons by inhibiting endocytosis of the nerve growth factor (NGF) receptor, TrkA.
Genetically correcting RCAN1 levels in Down syndrome mice markedly improves NGF-dependent receptor trafficking, neuronal survival and innervation.
These results uncover a critical link between calcineurin signalling, impaired neurotrophin trafficking and neurodevelopmental deficits in the peripheral nervous system in Down syndrome.
http://www.nature.com/ncomms/2015/151214/ncomms10119/full/ncomms10119.html
Edited
Latest News
A personalized neuromodulation approach to severe depression
Fast, fully automated software constructs accurate models of protein structure
Plasma MT-DNA test identifies COVID-19 patients at high risk of severe disease
Restricted diet and glucose uptake in the brain lead to longer life
Pixelated chemical displays offer versatile liquid handling
Other Top Stories
Three new studies identify neutralizing antibodies against SARS-CoV-2
How poor oral health may worsen gut inflammation
Cholesterol control by gut bacteria
How BCG vaccination reduces susceptibility to infections
Gut bacterial neurotransmitter modulates host behaviour!
Protocols
Dual-Angle Protocol for Doppler Optical Coherence Tomography to Improve Retinal Blood Flow Measur…
Detection of protein SUMOylation in vivo
In vivo analysis of protein sumoylation induced by a viral protein: Detection of HCMV pp71-induce…
Determination of SUMOylation sites
miR-Selection 3'UTR Target Selection Kit
Publications
New Guidance for Type 1 Diabetes Continuous Glucose Monitoring Use During Exercise
Expert programmers have fine-tuned cortical representations of source code
Cellular, molecular, and clinical mechanisms of action of deep brain stimulation–a systematic rev…
DeepTracer for fast de novo cryo-EM protein structure modeling and special studies on CoV-related…
Circulating mitochondrial DNA is an early indicator of severe illness and mortality from COVID-19
Presentations
Homeostasis
PLANT MITOCHONDRIAL BIOLOGY
Photosynthesis
Endocrine Disorders
THE PITUITARY GLAND
Posters
ACMT 2020 Annual Scientific Meeting Abstracts - New York, NY
Abstracts from the 2020 Annual Scientific Meeting of the British and Irish Hypertension Society (…
ACNP 58th Annual Meeting: Poster Session III
ACNP 58th Annual Meeting: Poster Session II
ACNP 58th Annual Meeting: Poster Session I