Molecular Genetics ePosters

SP4 gene is one of the two risk genes implicated in schizophrenia in recent large unpublished case-controlled genomic and exomic sequencing studies. Data on Spatio-temporal SP4 expression in the brain and it's biological functions are sparse in published literature. Bulk RNA sequencing and single-cell high-resolution…

TCF7L2 is a high-confidence risk gene for neurodevelopmental disorders (NDs), but its role in their pathogenesis is unknown. It is highly expressed in the thalamus - candidate structure for NDs pathogenesis - regulating its electrophysiological maturation. To understand the role of thalamus-expressed Tcf7l2 in signal…

WNT signaling is aberrantly activated in human tumors including gliomas. Promoter methylation and expression of WNT pathway’s negative regulators, DKK1 and DKK3, and positive, GSK3β, together with two signaling antagonists, SFRP1 and SFRP3, were investigated in human gliomas. Gliomas, paired blood and FFPE slides were…

More pilot studies are emerging with the goal of contributing to the bigger puzzle of personalized multiple sclerosis (MS) therapies. This study aimed to examine the potential benefit of using four non-coding RNAs (ncRNAs) (miR-141, miR-9, MEG3, and IFNG-AS1) as prognostic and/or diagnostic biomarkers for MS. We also…

Growth-factor receptor bound protein 10 (GRB10) is a signal adapter protein encoded by an imprinted gene, with roles in growth control, cellular proliferation, and insulin signalling. Grb10 has a unique, tissue-specific imprinted expression; the paternal copy being expressed in the CNS, whereas the maternal copy is…

Although oxytocin (Oxt) is expressed in a highly conserved neuroanatomical pattern among vertebrates, brain OXT receptor (Oxtr) distribution is highly variable across species and associated with species-typical social behavior. Genetic mechanisms leading to diversity in brain Oxtr expression, and a causal link between…

Alzheimer’s disease (AD) is the most common and progressive type of brain disorder that affects parts of the brain responsible for memory, speaking, thinking, and many other important functions. Apart from its common risk factors such as aging, environment, and lifestyle elements, the risk of developing AD largely…

Vacuolar-type adenosine triphosphatase (v-ATPase) is a multimeric complex that drives the transport of hydrogen ions upon ATP hydrolysis. At lysosomal compartments, v-ATPase mediates the luminal acidification necessary for catabolic processes, such as endocytic degradation and autophagy. Autophagy is particularly…

Aims: Metabolic profile impacts on tissue development including neurons in brain, yet the full repertoire of metabolic signals that shape developing neuronal architecture remain mysterious. Our aim is to clarify the metabolic crosstalk that coordinates the early acquisition of the neurite complexity in developing…

Multiple sclerosis (MS) is a prevalent demyelinating disease that primarily affects young adults. Within the realm of MS patients, the extent of disease severity and progression differs greatly across individuals. Studies conducted on post-mortem tissue samples have characterized complex lesion types that diverge…

Presenilin1 (PSEN1) E280A mutation causes early onset Alzheimer’s disease (AD) in the world’s largest familial AD kindred. We previously published a case report of a carrier from this kindred who was remarkably protected from cognitive decline for thirty years. Positron emission tomography (PET) brain analysis showed…

Our ability to develop, learn, and adapt depends on the brain’s capacity to change over time. To analyze plasticity processes over time in individual animals, we introduced a novel technique that enables immediate-early gene (IEG) activity to be mapped noninvasively using magnetic resonance imaging (MRI). Using this…

Recent studies revealed that the dysfunction of post-synapse and/or pre-synapse related to neuropsychological disorder such as autism spectrum disorders (ASD). HPC-1/syntaxin1A (STX1A) is known to regulate neurotransmitter release at pre-synaptic terminal. Previously, we found that some ASD patients were haploid for…

Previous studies provided that Aβ1-42 peptide, a pathological component of Alzheimer's disease (AD), and α-synuclein, the major protein of Lewy bodies in Parkinson's disease (PD), may interact with transcription factors and affect gene transcription. Researchers have revealed that Aβ1-42 can be found in the nucleus,…

Despite its critical importance to social animals, the mechanisms underlying the establishment of new social interactions remain largely unknown. We identified a role for neurons expressing neuropeptide B/W receptor-1 (NPBWR1) in the central amygdala (CeANpbwr1 neurons) in this process. CeANpbwr1 neurons were…

Gain-of-function (GOF) variants of the Nav1.2 sodium channel have been strongly associated with a spectrum of developmental disorders, among which epilepsy is a commonly observed feature. Although prior studies conducted in heterologous expression systems have successfully delineated the biophysical mechanism…

Koolen-de Vries syndrome (KdVS) is a rare genetic disorder marked by intellectual disability and epilepsy, resulting from haploinsufficiency of KANSL1. This gene encodes a scaffolding protein within the non-specific lethal (NSL) complex which is crucial for histone modifications. The NSL complex regulates the…

Dual-specificity phosphatase (Dusp8) has previously been identified as type 2 diabetes risk gene in humans that is highly expressed in the brain. Dusp8 acts as physiological inhibitor for mitogen-activated protein (MAP) kinases, which are involved in multiple CNS processes. Recently, we reported that hypothalamic…

Adenosine Deaminases Acting on RNA (ADAR) enzymes catalyse the conversion of adenosine (A) to inosine (I) within double-stranded RNA (dsRNA) molecules. This mechanism, known as A-I RNA editing, is able to modulate gene expression, RNA stability and protein function.Recently, new therapeutic approaches based on…

Neuronal networks require precise coordination of excitatory and inhibitory synaptic connectivity to function properly. Regulation of parvalbumin-positive (PV+) interneuron activity is especially important for network function, and changes in PV+ interneuron activity correlate with an animal’s performance in learning…

Learning relies on neuronal plasticity through the dynamic modification of proteome repertoire. Among the mechanisms that trigger proteome remodeling, activity-dependent transcription and -translation programs have been shown to be essential for learning and memory. Yet, alternative splicing is the main driver of…

Neuronal circuits assemble in a non-random fashion, achieving specificity beyond cell-cell apposition. Two mechanisms have been classically proposed to fine-tune brain circuits: activity or genetics-dependent processes. Experimental evidence supports both options, suggesting a balanced contribution of each. In this…

By using our senses, we explore and perceive the world around us. To process diverse sensory cues simultaneously, the brain relies on well-defined and segregated sensory circuits. Yet, the mechanisms underlying circuit specificity are poorly understood. It is accepted, however, that the development of sensory circuits…

Birds are excellent models to study learning, complex cognition, song and vision. However, to understand how these behaviors are realized within the brain, methods that are able to record and control cellular activity on a millisecond timescale are essential. Recent advancements in novel methods, such as optogenetics,…