myocilin

MYOC

A gene on chromosome 1q23-q24 that encodes myocilin, a protein thought to play a role in cytoskeletal function, which is highly expressed in ocular tissues including the trabecular meshwork, which regulates intraocular pressure.

Molecular pathology
MYOC mutations cause hereditary juvenile-onset open-angle glaucoma.

myocilin

(mī″ō-sĭl′ĭn)
A glycoprotein that influences or regulates intraocular pressure. Mutations in the myocilin gene are found in some people with glaucoma.
References in periodicals archive ?
Corticosteroids are also alleged to cause glucocorticoid receptor-mediated cross linkage of actin-filament network21 and an expression of protein myocilin in trabecular meshwork impeding aqueous outflow.22 Patients with diabetic mellitus are more prone to have higher IOP and increased prevalence of POAG and ocular hypertension.
Currently known genes associated with POAG include Myocilin (MYOC), Atonal BHLH transcription Factor 7 (ATOH7), Transmembrane and Coiled-Coil Domains 1 (TMCO1), SIX Homeobox 1/SIX Homeobox 6 (SIX1/SIX6), Growth Arrest Specific 7 (GAS7), (Abu-Amero et al.
Two candidate genes associated more broadly with other subtypes of glaucoma, myocilin (MYOC), and lysyl oxidase homolog 1 (LOXL1) have shown limited association with PDS/PG.
A reduction of myocilin mRNA was observed, suggesting the feasibility of translating this technology to patients with MYOC mutations.
The factors associated with pathogenesis of glaucoma include high intraocular pressure (IOP), increased oxidative stress, aging, glutamate neurotoxicity, and susceptibility genes such as optineurin and myocilin [2-4].
In six affected and three asymptomatic members, gene sequencing revealed a mutation c.C1456T in exon 3 of myocilin gene (MYOC).
Se encuentra localizado en el cromosoma 1q23-25, llamado Myocilin, codificado como GLC1A (20) (figura 2).
OLFM3 is an olfatomedin-related protein that interacts with myocilin (Torrado et al., 2002), which is a major cause of glaucoma and may play a role in cytoskeletal function (Stone et al., 1997).
Sodium 4-Phenylbutyrate Acts as a Chemical Chaperone on Misfolded Myocilin to Rescue Cells from Endoplasmic Reticulum Stress and Apoptosis.
A study was undertaken on 30 patients (25 male and 5 females; mean age at onset of disease being 59.23 years) of primary open angle glaucoma (POAG) and similar no (sixteen male and 14 females; mean age at onset of disease being 54.10 years) primary angle closure glaucoma (PACG) for (i) analyzing mutations in myocilin (MYOC) gene, (ii) inheritance pattern of MYOC gene, (iii) comparing the frequency of MYOC gene in northern and southern population, and (iv) detect genotype and phenotype correlation based on mutations.
The suitability of DNA extracted from tissue sections was confirmed by the amplification of the cellular gene Myocilin, using primers capable of amplifying conserved 200 bp of coding sequence (primer sequence in the Table).
Papers includes the age and racial variations, risk factors for open-angle glaucoma, risk factors in various isolated populations, mechanisms of intraocular pressure elevation, genetics of glaucoma (including susceptibility and myocilin mutations), molecular and cellular responses in the eye to glaucoma, ocular tissue and psycho-physiological responses, current and successful models, and therapeutic modalities.