Investigation of whole mitochondrial genome variation in normal tension glaucoma.

08:00 EDT 9th October 2018 | BioPortfolio

Summary of "Investigation of whole mitochondrial genome variation in normal tension glaucoma."

Glaucoma is one of the leading causes of visual impairment and blindness worldwide. However, the cause of retinal ganglion cell loss and damage of the optic nerve in its pathogenesis is largely unknown. The high energy demands of these cells may reflect their strong dependence on mitochondrial function and thus sensitivity to mitochondrial defects. To address this issue, we studied whole mitochondrial genome variation in normal tension glaucoma patients and control individuals from the Polish population using next generation sequencing. Our findings indicate that few features of mitochondrial DNA variation are different for glaucoma patients and control subjects. New insights into normal tension glaucoma development are discussed. We provide also a comprehensive approach for mitochondrial DNA analysis and variant evaluation.


Journal Details

This article was published in the following journal.

Name: Experimental eye research
ISSN: 1096-0007


DeepDyve research library

PubMed Articles [16667 Associated PubMed Articles listed on BioPortfolio]

Discovery of mitochondrial DNA variants associated with genome-wide blood cell gene expression: a population-based mtDNA sequencing study.

The effect of mitochondrial DNA variation on peripheral blood transcriptomics in health and disease is not fully known. Sex-specific mitochondrially controlled gene expression patterns have been shown...

The association between mitochondrial genetic variation and reduced colony fitness in an invasive wasp.

Despite the mitochondrion's long recognised role in energy production, mitochondrial DNA (mtDNA) variation commonly found in natural populations was assumed to be effectively neutral. However, variati...

Nuclear genetic regulation of the human mitochondrial transcriptome.

Mitochondria play important roles in cellular processes and disease, yet little is known about how the transcriptional regime of the mitochondrial genome varies across individuals and tissues. By anal...

Next-generation sequencing identifies novel mitochondrial variants in pituitary adenomas.

Disrupted mitochondrial functions and genetic variants of mitochondrial DNA (mtDNA) have been observed in different human neoplasms. Next-generation sequencing (NGS) can be used to detect even low het...

Correlation between Basal Macular Circulation and Following Glaucomatous Damage in Progressed High-Tension and Normal-Tension Glaucoma.

Evaluate the correlation between basal macular circulation and late structural damage in progressed high-tension glaucoma (HTG) and normal-tension glaucoma (NTG) via optical coherence tomography angio...

Clinical Trials [5356 Associated Clinical Trials listed on BioPortfolio]

Mitochondrial Genetics of Presbycusis

The main goal of this study is to identify mitochondrial mutations associated with presbycusis. Patients affected by severe presbycusis and normal hearing controls (according to ISO7029 no...

Pressure Difference Between Brain and Eye: a Possible Cause to Normal Tension Glaucoma.

The main aim of this study is to determine the trans-laminal cribrosa pressure difference (TLCPD) for normal tension glaucoma (NTG) patients from the brain and the eye in supine, upright a...

The Role of Therapy for Muscle Tension Dysphagia

Muscle tension dysphagia is a novel diagnostic taxonomy describing a subset of patient population with reported dysphagia who exhibit normal oropharyngeal and esophageal swallowing functio...

Tension Versus no Tension With Foley Bulb Induction

To compare the application of tension versus no tension in Foley transcervical catheters for pre-induction cervical ripening.

Mitochondrial Diseases - Long-read Genome and Transcriptome Sequencing in Cases Unresolved After Short-read Genomics

The MiDiSeq project will enroll 20 unresolved index patients with suspected mitochondrial disease prioritized for genomic analysis.

Medical and Biotech [MESH] Definitions

A form of GLAUCOMA in which chronic optic nerve damage and loss of vision normally attributable to buildup of intraocular pressure occurs despite prevailing conditions of normal intraocular pressure.

Proteins encoded by the mitochondrial genome or proteins encoded by the nuclear genome that are imported to and resident in the MITOCHONDRIA.

Double-stranded DNA of MITOCHONDRIA. In eukaryotes, the mitochondrial GENOME is circular and codes for ribosomal RNAs, transfer RNAs, and about 10 proteins.

The genetic complement of MITOCHONDRIA as represented in their DNA.

A variation from the normal set of chromosomes characteristic of a species.

Quick Search


DeepDyve research library

Relevant Topics

Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...

Ophthalmology is the branch of medicine that is devoted to the study and treatment of eye diseases. As well as mild visual defects correctable by lenses, ophthalmology is concerned with glaucoma, uveitis and other serious conditions affecting the eye, ...

Searches Linking to this Article