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KCNJ10
ATP-sensitive inward rectifier potassium channel 10 is a protein that in humans is encoded by the ''KCNJ10'' gene. Function This gene encodes a member of the inward rectifier-type potassium channel family, Kir4.1, characterized by having a greater tendency to allow potassium to flow into, rather than out of, a cell. Kir4.1, may form a heterodimer with another potassium channel protein and may be responsible for the potassium buffering action of glial cells in the brain. Mutations in this gene have been associated with seizure susceptibility of common idiopathic generalized epilepsy syndromes. EAST syndrome Humans with mutations in the KCNJ10 gene that cause loss of function in related K+ channels can display Epilepsy, Ataxia, Sensorineural deafness and Tubulopathy, the EAST syndrome (Gitelman syndrome phenotype) reflecting roles for KCNJ10 gene products in the brain, inner ear and kidney. The Kir4.1 channel is expressed in the Stria vascularis and is essential for formation ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
EAST Syndrome
EAST syndrome is a syndrome consisting of epilepsy, ataxia (a movement disorder), sensorineural deafness (deafness because of problems with the hearing nerve) and salt-wasting renal tubulopathy (salt loss caused by kidney problems). The tubulopathy (renal tubule abnormalities) in this condition predispose to hypokalemic (low potassium) metabolic alkalosis with normal blood pressure. Hypomagnesemia (low blood levels of magnesium) may also be present. EAST syndrome is also called SeSAME syndrome, as a syndrome of seizures, sensorineural deafness, ataxia, intellectual disability (mental retardation), and electrolyte imbalances. It is an autosomal recessive genetic disorder caused by mutations in the KCNJ10 gene, as discovered bBockenhauer and co-workers The KCNJ10 gene encodes the K+ channel Kir4.1 (allowing K+ to flow into a cell rather than out) and is present in the brain, ear, and kidney. Symptoms and signs Mutations Many mutations that are found within EAST syndrome ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Inward-rectifier Potassium Ion Channel
Inward-rectifier potassium channels (Kir, IRK) are a specific lipid-gated subset of potassium channels. To date, seven subfamilies have been identified in various mammalian cell types, plants, and bacteria. They are activated by phosphatidylinositol 4,5-bisphosphate ( PIP2). The malfunction of the channels has been implicated in several diseases. IRK channels possess a pore domain, homologous to that of voltage-gated ion channels, and flanking transmembrane segments (TMSs). They may exist in the membrane as homo- or heterooligomers and each monomer possesses between 2 and 4 TMSs. In terms of function, these proteins transport potassium (K+), with a greater tendency for K+ uptake than K+ export. The process of inward-rectification was discovered by Denis Noble in cardiac muscle cells in 1960s and by Richard Adrian and Alan Hodgkin in 1970 in skeletal muscle cells. Overview of inward rectification A channel that is "inwardly-rectifying" is one that passes current (positive cha ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Interleukin 16
Interleukin 16 is a pro-inflammatory pleiotropic cytokine. It's precursor, pro-interleukin-16 is a protein that in humans is encoded by the ''IL16'' gene. This gene was discovered in 1982 at Boston University by Dr. David Center and Dr. William Cruikshank. Function The cytokine encoded by this gene is a pleiotropic cytokine that functions as a chemoattractant, a modulator of T cell activation, and an inhibitor of HIV replication. The signaling process of this cytokine is mediated by CD4. The product of this gene undergoes proteolytic processing, which is found to yield two functional proteins. The cytokine function is exclusively attributed to the secreted C-terminal peptide, while the N-terminal product may play a role in cell cycle control. Caspase 3 is reported to be involved in the proteolytic processing of this protein. Two alternatively spliced transcript variants encoding distinct isoforms have been reported. Interleukin 16 (IL-16) is released by a variety of cells (in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Stria Vascularis
The stria vascularis of the cochlear duct is a capillary loop in the upper portion of the spiral ligament (the outer wall of the cochlear duct). It produces endolymph for the scala media in the cochlea. Structure The stria vascularis is part of the lateral wall of the cochlear duct. It is a somewhat stratified epithelium containing primarily three cell types: * marginal cells, which are involved in K+ transport, and line the endolymphatic space of the scala media. * intermediate cells, which are pigment-containing cells scattered among capillaries. * basal cells, which separate the stria vascularis from the underlying spiral ligament. They are connected to basal cells with gap junctions. The stria vascularis also contains pericytes, melanocytes, and endothelial cells. It also contains intraepithelial capillaries - it is the only epithelial tissue that is not avascular (completely lacking blood vessels and lymphatic vessels). Function The stria vascularis produces endoly ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hearing (sense)
Hearing, or auditory perception, is the ability to perceive sounds through an organ, such as an ear, by detecting vibrations as periodic changes in the pressure of a surrounding medium. The academic field concerned with hearing is auditory science. Sound may be heard through solid, liquid, or gaseous matter. It is one of the traditional five senses. Partial or total inability to hear is called hearing loss. In humans and other vertebrates, hearing is performed primarily by the auditory system: mechanical waves, known as vibrations, are detected by the ear and transduced into nerve impulses that are perceived by the brain (primarily in the temporal lobe). Like touch, audition requires sensitivity to the movement of molecules in the world outside the organism. Both hearing and touch are types of mechanosensation. Hearing mechanism There are three main components of the human auditory system: the outer ear, the middle ear, and the inner ear. Outer ear The outer ear in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hair Cell
Hair cells are the sensory receptors of both the auditory system and the vestibular system in the ears of all vertebrates, and in the lateral line organ of fishes. Through mechanotransduction, hair cells detect movement in their environment. In mammals, the auditory hair cells are located within the spiral organ of Corti on the thin basilar membrane in the cochlea of the inner ear. They derive their name from the tufts of stereocilia called ''hair bundles'' that protrude from the apical surface of the cell into the fluid-filled cochlear duct. The stereocilia number from 50-100 in each cell while being tightly packed together and decrease in size the further away they are located from the kinocilium. The hair bundles are arranged as stiff columns that move at their base in response to stimuli applied to the tips. Mammalian cochlear hair cells are of two anatomically and functionally distinct types, known as outer, and inner hair cells. Damage to these hair cells results in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Stereocilia
Stereocilia (or stereovilli or villi) are non-motile apical cell modifications. They are distinct from cilia and microvilli, but are closely related to microvilli. They form single "finger-like" projections that may be branched, with normal cell membrane characteristics. They contain actin. Stereocilia are found in the vas deferens, the epididymis, and the sensory cells of the inner ear. Structure Stereocilia are cylindrical and non-motile. They are much longer and thicker than microvilli, form single "finger-like" projections that may be branched, and have more of the characteristics of the cellular membrane proper. Like microvilli, they contain actin and lack an axoneme. This distinguishes them from cilia. They do not have a Basal body at their base since they do not contain microtubules. They may or may not be covered by a glycocalyx coating. They have no fixed arrangement, different to the structure present in kinocilium. Function Stereocilia are found in: *the vas ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mechanosensation
Mechanosensation is the transduction of mechanical stimuli into neural signals. Mechanosensation provides the basis for the senses of light touch, hearing, proprioception, and pain. Mechanoreceptors found in the skin, called cutaneous mechanoreceptors, are responsible for the sense of touch. Tiny cells in the inner ear, called hair cells, are responsible for hearing and balance. States of neuropathic pain, such as hyperalgesia and allodynia, are also directly related to mechanosensation. A wide array of elements are involved in the process of mechanosensation, many of which are still not fully understood. Cutaneous mechanoreceptors Cutaneous mechanoreceptors are physiologically classified with respect to conduction velocity, which is directly related to the diameter and myelination of the axon. Rapidly adapting and slowly adapting mechanoreceptors Mechanoreceptors that possess a large diameter and high myelination are called ''low-threshold mechanoreceptors''. Fibers that respond ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Endolymph
Endolymph is the fluid contained in the membranous labyrinth of the inner ear. The major cation in endolymph is potassium, with the values of sodium and potassium concentration in the endolymph being 0.91 mM and 154 mM, respectively. It is also called ''Scarpa's fluid'', after Antonio Scarpa. Structure The inner ear has two parts: the bony labyrinth and the membranous labyrinth. The membranous labyrinth is contained within the bony labyrinth, and within the membranous labyrinth is a fluid called endolymph. Between the outer wall of the membranous labyrinth and the wall of the bony labyrinth is the location of perilymph. Composition Perilymph and endolymph have unique ionic compositions suited to their functions in regulating electrochemical impulses of hair cells. The electric potential of endolymph is ~80-90 mV more positive than perilymph due to a higher concentration of K compared to Na. The main component of this unique extracellular fluid is potassium, which is ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, responding to stimuli, providing structure to cells and organisms, and transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the nucleotide sequence of their genes, and which usually results in protein folding into a specific 3D structure that determines its activity. A linear chain of amino acid residues is called a polypeptide. A protein contains at least one long polypeptide. Short polypeptides, containing less than 20–30 residues, are rarely considered to be proteins and are commonly called peptides. The individual amino acid residues are bonded together by peptide bonds and adjacent amino acid residues. The sequence of amino acid residue ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Kidney
The kidneys are two reddish-brown bean-shaped organs found in vertebrates. They are located on the left and right in the retroperitoneal space, and in adult humans are about in length. They receive blood from the paired renal arteries; blood exits into the paired renal veins. Each kidney is attached to a ureter, a tube that carries excreted urine to the bladder. The kidney participates in the control of the volume of various body fluids, fluid osmolality, acid–base balance, various electrolyte concentrations, and removal of toxins. Filtration occurs in the glomerulus: one-fifth of the blood volume that enters the kidneys is filtered. Examples of substances reabsorbed are solute-free water, sodium, bicarbonate, glucose, and amino acids. Examples of substances secreted are hydrogen, ammonium, potassium and uric acid. The nephron is the structural and functional unit of the kidney. Each adult human kidney contains around 1 million nephrons, while a mouse kidney contains on ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
