Publications by authors named "A Belen Elgoyhen"
Hereditary hearing loss stands as the most prevalent sensory disorder, with over 124 non-syndromic genes and approximately 400 syndromic forms of deafness identified in humans. The clinical presentation of these conditions spans a spectrum, ranging from mild to profound hearing loss. The aim of this study was to identify the genetic cause of hearing loss in a family and functionally validate a novel variant identified in the 6 gene.
View Article and Find Full Text PDFThe manuscript "Hearing Loss: Genetic Testing, Current Advances and the Situation in Latin America" by De Rosa et al [...
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- This study examined three families with WS using whole-exome sequencing (WES) to identify genetic variations, revealing one pathogenic single nucleotide variant (SNV) and two new copy number variants (CNVs) related to WS types.
- The findings stress the importance of using multiple genetic testing methods for accurate diagnoses, which are essential for effective patient management and personalized genetic counseling.
During development, inner hair cells (IHCs) in the mammalian cochlea are unresponsive to acoustic stimuli but instead exhibit spontaneous activity. During this same period, neurons originating from the medial olivocochlear complex (MOC) transiently innervate IHCs, regulating their firing pattern which is crucial for the correct development of the auditory pathway. Although the MOC-IHC is a cholinergic synapse, previous evidence indicates the widespread presence of gamma-aminobutyric acid (GABA) signaling markers, including presynaptic GABA receptors (GABAR).
View Article and Find Full Text PDFThe α9α10 nicotinic cholinergic receptor (nAChR) is a ligand-gated pentameric cation-permeable ion channel that mediates synaptic transmission between descending efferent neurons and mechanosensory inner ear hair cells. When expressed in heterologous systems, α9 and α10 subunits can assemble into functional homomeric α9 and heteromeric α9α10 receptors. One of the differential properties between these nAChRs is the modulation of their ACh-evoked responses by extracellular calcium (Ca).
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