Linked Life Data

18283249

Source:http://linkedlifedata.com/resource/pubmed/id/18283249

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2008-3-6
pubmed:abstractText
This paper presents the current views, regarding the pathomechanisms, which lead to the development of pathological symptoms in the enlargement of the vestibular aqueduct syndrome (EVAS) and the Pendred syndrome (PS). Associated phenotypes have been discussed and an attempt has been undertaken to correlate them with a corresponding genotype. Mutations of SLC26A4 gene are one of the factors, which are at the base of congenital hearing losses. Inherited hearing loss occurs in these cases either as an isolated phenomenon with anatomical anomalies of the labyrinth in the background (EVAS) or with endocrine disorders (PS). The official name of SLC26A4 gene is "solute carrier family 26, member 4". Pendrin, the product of its expression, transports iodine beyond thyroid follicular cells, where it is linked with thyroglobulin and, then, used in hormone synthesis. Abnormal expression of SLC26A4 gene results in disturbance of iodine organification. In the internal ear, pendrin transports bicarbonates to the endolymph, taking in this way an active part in pH control of the endolymph and providing proper functioning of KCNJ10 potassium channels and TRP5 calcium channels. Disorders of homeostasis in labyrinth fluids are responsible for abnormalities of its structure, such as enlargement of the vestibular aqueduct and of the endolymph sac. At present, the Human Gene Mutations database provides 124 recessive mutations of SLC26A4 gene. In EVAS and PS, two missense mutations are most frequently observed: L236P and T416P, as well as the mutation, regarding abnormal splicing process, i.e., IVS8+1G-A, in a total of 55% of the patients with recognised mutation of SLC26A4 gene; the remaining 45% of changes of this gene are unique mutations.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0172-780X
pubmed:author
pubmed:issnType
Print
pubmed:volume
29
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
29-36
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
Phenotypes of SLC26A4 gene mutations: Pendred syndrome and hypoacusis with enlarged vestibular aqueduct.
pubmed:affiliation
Department of Otolaryngology, Medical University of Lodz, University Hospital No. 1, Lodz, Poland.
pubmed:publicationType
Journal Article, Review