scholarly journals A simple secretion assay for assessing new and existing myocilin variants

2021 ◽  
Author(s):  
John Hulleman ◽  
Emi Nakahara
Keyword(s):  
Western Blotting ◽  
Primary Open Angle Glaucoma ◽  
Cultured Cells ◽  
Open Angle Glaucoma ◽  
Luciferase Assay ◽  
Sufficient Information ◽  
Aggregate Formation ◽  
Gaussia Luciferase ◽  
Secretion Assay

With the increasing use of molecular genetics approaches for determination of potential disease-causing mutations, it is becoming more important to be able to interpret and act upon the provided results. As an example of such an instance, nearly 300 mutations have been identified in the myocilin (MYOC) gene, which is the most commonly mutated gene causing primary open angle glaucoma. Yet a lack of sufficient information exists for many of these variants, hindering their definitive classification. While the function of MYOC is unclear, biochemically, the vast majority of glaucoma-causing MYOC mutations result in protein non-secretion and intracellular insoluble aggregate formation in cultured cells. Previously we generated a Gaussia luciferase-based MYOC fusion protein to sensitively track secretion of the protein. Herein we applied this same assay to fourteen clinically-derived MYOC variants with varying degrees of predicted pathogenicity and compared the luciferase secretion results with the better established MYOC assay of western blotting. Eight of the variants (G12R, V53A, T204T, P254L, T325T, D380H, D395_E396insDP, and P481S) had not been biochemically assessed previously. Of these, P254L and D395_E396insDP demonstrated significant secretion defects from human embryonic kidney (HEK-293A) cells reminiscent of glaucoma-causing mutations. Overall, we found that the luciferase assay results agreed with western blotting for thirteen of the fourteen variants (93%), suggesting a strong concordance. These results suggest that the Gaussia luciferase assay may be used as a complementary or standalone assay for quickly assessing MYOC variant behavior, and anticipate that these results will be useful in MYOC variant curation and reclassification.

COMPARATIVE ANALYSIS OF TONOMETRY METHODS

2021 ◽  
Vol Special issue (3) ◽  
pp. 21-24
Author(s):  
Azamat Yusupov ◽  
◽  
Muyassar Khamitovna Karimova ◽  
Mastona Zakirkhodzhayeva
Keyword(s):  
Risk Factor ◽  
Intraocular Pressure ◽  
Optic Nerve ◽  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
Glaucomatous Optic Neuropathy ◽  
Open Angle ◽  
Optic Nerve Atrophy ◽  
Glaucoma Diagnostics

The principles of glaucoma diagnostics are based on the triad of symptoms -the excess of IOP over the tolerant level, changes in the visual field, primarily in the Bjerrum zone, and also on glaucomatous excavation of the optic nerve head. It should be recognized that the IOP level is the only proven risk factor for the progression of glaucomatous optic nerve atrophy and, at the same time, the only factor that we can influence. That is why the determination of IOP is of great importance in diagnosis and is the basis for evaluating the effectiveness of glaucoma treatment.Keywords: IOP (intraocular pressure), tonometry, glaucoma, primary open-angle glaucoma, glaucomatous optic neuropathy, tonometer, pneumotonometer

scholarly journals Determination of Serum Ceruloplasmin Concentration in Patients with Primary Open Angle Glaucoma with Cataract and Patients with Cataract Only: A Pilot Study

2016 ◽  
Vol 22 ◽  
pp. 1384-1388 ◽  
Author(s):  
Monika Sarnat-Kucharczyk ◽  
Wojciech Rokicki ◽  
Jolanta Zalejska-Fiolka ◽  
Dorota Pojda-Wilczek ◽  
Ewa Mrukwa-Kominek
Keyword(s):  
Pilot Study ◽  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
Open Angle ◽  
Serum Ceruloplasmin

Clinical efficacy of osteopathic correction in the complex treatment of patients with unoperated open-angle glaucoma

2020 ◽  
pp. 97-105
Author(s):  
E. N. Simakova ◽  
O. V. Stenkova
Keyword(s):  
Intraocular Pressure ◽  
Drug Therapy ◽  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
Randomized Study ◽  
Main Group ◽  
Control Group ◽  
Open Angle ◽  
Complex Treatment ◽  
Hypotensive Drug

Introduction. Glaucoma is one of the most significant eye diseases. It is often diagnosed, not always amenable to therapy, and can lead to a complete loss of visual functions. In recent years, the method of osteopathic correction has become widespread as one of the effective methods of treatment and rehabilitation of patients with pathologies of various body systems. In the pathogenesis of glaucoma, it is customary to distinguish a dystrophic concept, which considers primary open-angle glaucoma as a result of dystrophic changes in the connective tissue, as well as in the endothelial lining of the trabeculae and Schlemm′s canal, especially destructive changes in mitochondria and the alteration of their functional activity. A vascular concept is also distinguished. According to this concept, the central link in the pathogenesis of glaucoma is circulatory disorder in the ciliary vessels, ocular artery, and major vessels of the head and neck, it can be assumed that osteopathic correction in the treatment of patients with open-angle glaucoma will be pathogenetically substantiated and will have a positive effect on intraocular pressure and trophicity of the optic nerve. The goal of research — to study the influence of in osteopathic correction on the nature of unoperated glaucoma (stage IIA) and to substantiate the possibility of using osteopathic correction in the complex treatment of patients with this pathology.Materials and methods. A prospective controlled randomized study was conducted at 52 city polyclinics, branch 3, Moscow, from January 2018 to January 2019. 40 patients (70 eyes) aged 50 to 75 years with primary open-angle glaucoma IIA stage were examined. At this stage of the disease, patients most often seek medical care and the issue of conservative management is primarily considered. All patients were divided into two groups of 20 people: the main group and the control group. The treatment in the main group included hypotensive drug therapy and osteopathic correction. Patients of the control group received only drug therapy. All patients underwent ophthalmic (visometry, tonometry, perimetry) and osteopathic examination twice: before the treatment and after 3 months.Results. For patients with primary open-angle IIA non-operated glaucoma, regional (most often regions of the head, neck, dura mater) and local (abdominal diaphragm, iliac bones, hip and knee joints) somatic dysfunctions were the most typical. In the main group a statistically significant decrease in the frequency and severity of dysfunctions at all levels was stated. Also, in patients receiving osteopathic correction, a significant decrease in the level of intraocular pressure and perimetric indices was noted. In patients of the control group, no reliable changes in these indicators were obtained.Conclusion. The results obtained indicate that osteopathic correction is clinically effective in the complex treatment of patients with primary open-angle II A glaucoma.

Detection of specific proteins in the aqueous humor in primary open-angle glaucoma

1990 ◽  
Vol 4 (1) ◽  
pp. 1 ◽  
Author(s):  
In Seop Lee ◽  
Young Suk Yu ◽  
Dong Myung Kim ◽  
Dong Ho Youn ◽  
Jin Q Kim
Keyword(s):  
Aqueous Humor ◽  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
Open Angle ◽  
Specific Proteins
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