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TECTA
Alpha-tectorin is a protein that in humans is encoded by the ''TECTA'' gene. The tectorial membrane is an apical extracellular matrix (aECM) of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia, and leads to fluctuations in hair-cell membrane potential, transducing sound into electrical signals. Alpha-tectorin is one of the major noncollagenous components of the tectorial membrane. Mutations in the TECTA gene have been shown to be responsible for autosomal dominant In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and t ... nonsyndromic hearing impairment and a recessive form of sensorineural pre-lingual non-syndromic deafness. References Further ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nonsyndromic Deafness
Nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. In contrast, syndromic deafness involves hearing loss that occurs with abnormalities in other parts of the body. Genetic changes are related to the following types of nonsyndromic deafness. * DFNA: nonsyndromic deafness, autosomal dominant * DFNB: nonsyndromic deafness, autosomal recessive * DFNX: nonsyndromic deafness, X-linked * nonsyndromic deafness, mitochondrial Each type is numbered in the order in which it was described. For example, DFNA1 was the first described autosomal dominant type of nonsyndromic deafness. Mitochondrial nonsyndromic deafness involves changes to the small amount of DNA found in mitochondria, the energy-producing centers within cells. Most forms of nonsyndromic deafness are associated with permanent hearing loss caused by damage to structures in the inner ear. The inner ear consists of three parts: a snail-shaped structure called the cochlea that helps process ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Tectorial Membrane (cochlea)
The tectoria membrane (TM) is one of two acellular membranes in the cochlea of the inner ear, the other being the basilar membrane (BM). "Tectorial" in anatomy means forming a cover. The TM is located above the spiral limbus and the spiral organ of Corti and extends along the longitudinal length of the cochlea parallel to the BM. Radially the TM is divided into three zones, the limbal, middle and marginal zones. Of these the limbal zone is the thinnest (transversally) and overlies the auditory teeth of Huschke with its inside edge attached to the spiral limbus. The marginal zone is the thickest (transversally) and is divided from the middle zone by Hensen's Stripe. It overlies the sensory inner hair cells and electrically-motile outer hair cells of the organ of Corti and during acoustic stimulation stimulates the inner hair cells through fluid coupling, and the outer hair cells via direct connection to their tallest stereocilia. Structure The TM is a gel-like structure containing ... [...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] |
Gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a basic unit of heredity and the molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protein-coding genes and noncoding genes. During gene expression, the DNA is first copied into RNA. The RNA can be directly functional or be the intermediate template for a protein that performs a function. The transmission of genes to an organism's offspring is the basis of the inheritance of phenotypic traits. These genes make up different DNA sequences called genotypes. Genotypes along with environmental and developmental factors determine what the phenotypes will be. Most biological traits are under the influence of polygenes (many different genes) as well as gen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Extracellular Matrix
In biology, the extracellular matrix (ECM), also called intercellular matrix, is a three-dimensional network consisting of extracellular macromolecules and minerals, such as collagen, enzymes, glycoproteins and hydroxyapatite that provide structural and biochemical support to surrounding cells. Because multicellularity evolved independently in different multicellular lineages, the composition of ECM varies between multicellular structures; however, cell adhesion, cell-to-cell communication and differentiation are common functions of the ECM. The animal extracellular matrix includes the interstitial matrix and the basement membrane. Interstitial matrix is present between various animal cells (i.e., in the intercellular spaces). Gels of polysaccharides and fibrous proteins fill the Interstitial fluid, interstitial space and act as a compression buffer against the stress placed on the ECM. Basement membranes are sheet-like depositions of ECM on which various epithelial cells rest ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Inner Ear
The inner ear (internal ear, auris interna) is the innermost part of the vertebrate ear. In vertebrates, the inner ear is mainly responsible for sound detection and balance. In mammals, it consists of the bony labyrinth, a hollow cavity in the temporal bone of the skull with a system of passages comprising two main functional parts: * The cochlea, dedicated to hearing; converting sound pressure patterns from the outer ear into electrochemical impulses which are passed on to the brain via the auditory nerve. * The vestibular system, dedicated to balance The inner ear is found in all vertebrates, with substantial variations in form and function. The inner ear is innervated by the eighth cranial nerve in all vertebrates. Structure The labyrinth can be divided by layer or by region. Bony and membranous labyrinths The bony labyrinth, or osseous labyrinth, is the network of passages with bony walls lined with periosteum. The three major parts of the bony labyrinth are the vestib ... [...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] |
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] |
Autosomal Dominant
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes ( autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance such as incomplete d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sensorineural Hearing Loss
Sensorineural hearing loss (SNHL) is a type of hearing loss in which the root cause lies in the inner ear or sensory organ (cochlea and associated structures) or the vestibulocochlear nerve (cranial nerve VIII). SNHL accounts for about 90% of reported hearing loss . SNHL is usually permanent and can be mild, moderate, severe, profound, or total. Various other descriptors can be used depending on the shape of the audiogram, such as high frequency, low frequency, U-shaped, notched, peaked, or flat. ''Sensory'' hearing loss often occurs as a consequence of damaged or deficient cochlear hair cells. Hair cells may be abnormal at birth or damaged during the lifetime of an individual. There are both external causes of damage, including infection, and ototoxic drugs, as well as intrinsic causes, including genetic mutations. A common cause or exacerbating factor in SNHL is prolonged exposure to environmental noise, or noise-induced hearing loss. Exposure to a single very loud noise such as ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
