aquaporin water channels

DEFINITION:

A family of membrane channel proteins that serve as selective pores through which water crosses the plasma membranes of many human tissues and cell types.

molecular

DEFINITION:

Of, pertaining to, or composed of molecules.

osmotic

DEFINITION:

Of, relating to, or having the properties of osmosis.

cell membranes

DEFINITION:

Plasma membranes

aquaporin-2

DEFINITION:

Also called WCH-CD, this water channel makes the principal cells of the inner medullary collecting duct in the kidneys more permeable to water. Lack of functional aquaporin-2 gene leads to a rare form of nephrogenic diabetes insipidus.

vasopressin

DEFINITION:

1. One of two octapeptide hormones formed by the neuronal cells of the hypothalamic nuclei and stored in the posterior lobe of the pituitary gland (neurohypophysis), the other being oxytocin. It stimulates the contraction of the muscular tissue of the capillaries and arterioles, raising the blood pressure. It promotes contraction of the intestinal musculature and increases peristalsis, and also exerts some contractile influence on the uterus. It also has a specific effect on the epithelial cells of the distal portion of the uriniferous tubule, augmenting resorption of water independently of solutes, resulting in concentration of urine and dilution of blood serum. Its rate of secretion is regulated chiefly by the osmolarity of the plasma.

2. [USP], A pharmaceutical preparation of the same principle, prepared synthetically or obtained from the posterior pituitary of healthy domestic animals used for food by man; used mainly as an antidiuretic in the treatment of acute or chronic diabetes insipidus, administered intramuscularly as a test of hypothalamo-neurohypophysial-renal function in distinguishing central from nephrogenic diabetes insipidus; it may also be used to stimulate smooth muscle tissue, especially to induce vasoconstriction in the presence of hemorrhage. Called also antidiuretic hormone (ADH).

water channel

DEFINITION:

A channel in the plasma membrane of plant and animal cells that permits passage of water molecules; chemical substances such as vasopressin cause the opening of new channels and increase permeability.

collecting duct

DEFINITION:

See under duct.

vasopressin

DEFINITION:

1. One of two octapeptide hormones formed by the neuronal cells of the hypothalamic nuclei and stored in the posterior lobe of the pituitary gland (neurohypophysis), the other being oxytocin. It stimulates the contraction of the muscular tissue of the capillaries and arterioles, raising the blood pressure. It promotes contraction of the intestinal musculature and increases peristalsis, and also exerts some contractile influence on the uterus. It also has a specific effect on the epithelial cells of the distal portion of the uriniferous tubule, augmenting resorption of water independently of solutes, resulting in concentration of urine and dilution of blood serum. Its rate of secretion is regulated chiefly by the osmolarity of the plasma.

2. [USP], A pharmaceutical preparation of the same principle, prepared synthetically or obtained from the posterior pituitary of healthy domestic animals used for food by man; used mainly as an antidiuretic in the treatment of acute or chronic diabetes insipidus, administered intramuscularly as a test of hypothalamo-neurohypophysial-renal function in distinguishing central from nephrogenic diabetes insipidus; it may also be used to stimulate smooth muscle tissue, especially to induce vasoconstriction in the presence of hemorrhage. Called also antidiuretic hormone (ADH).

water permeability

DEFINITION:

The property or state of being permeable to water.

collecting duct

DEFINITION:

See under duct.

regulation

DEFINITION:

1. The act of adjusting or state or being adjusted to a certain standard.
2. In biology, the adaptation of form or behavior of an organism to changed conditions.
3. The power to form a whole embryo from stages before the gastrula.

adaptation

DEFINITION:

1. The adjustment of an organism to its environment, or the process by which it enhances such fitness.

2. The normal adjustment of the eye to variations in intensity of light.

3. The decline in the frequency of firing of a neuron, particularly of a receptor, under conditions of constant stimulation.

4. In dentistry, (a) the proper fitting of a denture, (b) the degree of proximity and interlocking of restorative material to a tooth preparation, (c) the exact adjustment of bands to teeth.

5. In microbiology, the adjustment of bacterial physiology to a new environment.

congenital nephrogenic diabetes insipidus

DEFINITION:

A condition involving the kidneys (see nephrogenic diabetes insipidus) which exists at, and usually before, birth. Congenital refers to conditions that are present at birth, regardless of their causation.

kidney

DEFINITION:

One of a pair of vertebrate organs situated in the body cavity near the spinal column that excrete waste products of metabolism, in man are bean-shaped organs about 4-1/2 inches long lying behind the peritoneum in a mass of fatty tissue, and consist chiefly of nephrons by which urine is secreted, collected, and discharged into a main cavity whence it is conveyed by the ureter to the bladder.

vasopressin

DEFINITION:

1. One of two octapeptide hormones formed by the neuronal cells of the hypothalamic nuclei and stored in the posterior lobe of the pituitary gland (neurohypophysis), the other being oxytocin. It stimulates the contraction of the muscular tissue of the capillaries and arterioles, raising the blood pressure. It promotes contraction of the intestinal musculature and increases peristalsis, and also exerts some contractile influence on the uterus. It also has a specific effect on the epithelial cells of the distal portion of the uriniferous tubule, augmenting resorption of water independently of solutes, resulting in concentration of urine and dilution of blood serum. Its rate of secretion is regulated chiefly by the osmolarity of the plasma.

2. [USP], A pharmaceutical preparation of the same principle, prepared synthetically or obtained from the posterior pituitary of healthy domestic animals used for food by man; used mainly as an antidiuretic in the treatment of acute or chronic diabetes insipidus, administered intramuscularly as a test of hypothalamo-neurohypophysial-renal function in distinguishing central from nephrogenic diabetes insipidus; it may also be used to stimulate smooth muscle tissue, especially to induce vasoconstriction in the presence of hemorrhage. Called also antidiuretic hormone (ADH).

mutation

DEFINITION:

1. A change in form, quality, or some other characteristic.

2. In genetics, a permanent transmissible change in the genetic material, usually in a single gene.

frameshift mutation - A mutation resulting from an addition or subtraction that is not an exact multiple of 3 base pairs in a coding sequence. From the point of mutation onwards, base triplets (codons) are read out of phase; the reading frame of the gene is changed, and a completely different set of amino acids is made into protein.

loss-of-function mutation - Impairment of the function of a gene caused by mutation.

missense mutation - A mutation that changes a codon so that it codes for a different amino acid.

nonsense mutation - A mutation in which one of the three terminator codons in the mRNA (UAG, amber; UAA, ochre; UGA, umber or opal), used to signal the end of a polypeptide, appears in the middle of a genetic message, causes premature termination of transcription, and releases incomplete, generally nonfunctional polypeptides from the ribosome.

point mutation - A mutation resulting from a change in a single base pair in the DNA molecule, caused by the substitution of one nucleotide for another.

gene

DEFINITION:

A segment of a DNA molecule that contains all the information required for synthesis of a product (polypeptide chain or RNA molecule), including both coding and non-coding sequences. It is the biological unit of heredity, self-reproducing, and transmitted from parent to progeny. Each gene has a specific position (locus) on the chromosome map. From the standpoint of function, genes are conceived of as structural, operator, and regulatory genes.

wild-type gene - The normal allele of a gene, sometimes symbolized by +.

X-linked gene - A gene carried on the X chromosome; the corresponding trait, whether dominant or recessive, is always expressed in males, who have only one X chromosome. X linkage is used sometimes synonymously with sex linkage since no genetic disorders have as yet been associated with genes on the Y chromosome.

coding

DEFINITION:

See genetic coding.

vasopressin V2 receptor

DEFINITION:

The molecular structure within a cell or on the surface to which the antidiuretic hormone, arginine vasopressin binds.

X chromosome

DEFINITION:

The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in man and other male-heterogametic species.

autosomal recessive

DEFINITION:

In genetics, pertaining to incapability of expression unless the responsible allele is carried by both members of a pair of homologous chromosomes.

dominant

DEFINITION:

1. Exerting a ruling or controlling influence.

2. In genetics, capable of expression when carried by only one of a pair of homologous chromosomes.

3. A dominant allele or trait.

nephrogenic diabetes insipidus

DEFINITION:

A syndrome of polyuria and hyposthenuria caused by the failure of the renal tubules to reabsorb water in response to antidiuretic hormone, without disturbance in the renal filtration and solute excretion rates; the condition does not respond to exogenous vasopressin. It may be inherited as a rare X-linked trait or be acquired as a result of drug therapy or systemic disease.

mutations

DEFINITION:

1. Changes in form, quality, or some other characteristic.

aquaporin-2 gene

DEFINITION:

The segment of a DNA molecule that contains all the information required for synthesis of aquaporin-2.

molecular

DEFINITION:

Of, pertaining to, or composed of molecules.

cellular

DEFINITION:

Pertaining to, or made up of, cells.

autosomal nephrogenic diabetes insipidus

DEFINITION:

Nephrogenic diabetes insipidus involving an ordinary paired chromosome that is alike in males and females, as distinguished from sex chromosomes (i.e., as distinguished from X-linked nephrogenic diabetes insipidus).