Topic: CHRNA7

Major depressive disorder (MDD) is a disabling psychiatric disorder and a major cause of global health burden, affecting approximately 280 million people. Traditional antidepressants primarily target the monoaminergic system, have significant side effects and leave approximately 40% of patients unresponsive to treatment. Ketamine (KET) is a fast-acting antidepressant that transiently inhibits N-methyl-d-aspartate receptors (NMDARs) to produce its antidepressant effects. KET is rapidly metabolised to hydroxynorketamine (HNK), which reduces depressive behaviour in rodents. HNK has been shown to

We investigated the impact of the human-specific protein CHRFAM7A (dupα7) on the function of α7 nicotinic acetylcholine receptors (nAChRs) in two different types of neurons: human induced pluripotent stem cell (hiPSC)-derived cortical neurons, and superior cervical ganglion (SCG) neurons, taken from transgenic mice expressing CHRFAM7A. The CHRFAM7A co-assembles with CHRNA7 but lacks a major part of the extracellular N-terminal ligand-binding domain. We assessed the function of homomeric and hybrid pentameric receptors with Fura-2 calcium imaging and three different α7-specific ligands: PNU2829

Prader-Willi syndrome (PWS) is a neurodevelopmental disorder, characterized by hyperphagia, developmental delay and cognitive deficits. The PWS genomic locus (15q11-q13) is maternally imprinted and the pathology arises when the paternal genome copy is deleted, with maternal uniparental disomy of chromosome 15 or imprinting defects. This genomic locus harbors different C/D box small nucleolar RNAs (SNORDs) that feature short transcripts usually involved in post-transcriptional modifications of rRNA. In particular, SNORD116 is included in the majority of the disease-causing chromosomal deletions

The CHRNA7 gene codes for the alpha 7 nicotine acetylcholine receptor (alpha7-nAChR) subunit, which plays an anti-inflammatory role in microglia. The alpha7-nAChR is also involved in the phagocytosis of amyloid beta (ABeta) oligomers, an early marker of Alzheimer’s Disease (AD). A human specific duplication of CHRNA7 led to the formation of a new gene; CHRFAM7A. The gene product of CHRFAM7A, dup-alpha7, codes for a truncated subunit and is thought to negatively modulate the functions of alpha7-nAChR. The aim of the project is to comprehend how dup-alpha7 expression modulates alpha7-nAChR media