Advertisement

Topics

The importance of mitochondria in age-related and inherited eye disorders.

Summary of "The importance of mitochondria in age-related and inherited eye disorders."

Mitochondria are critical for ocular function as they represent the major source of a cell's supply of energy and play an important role in cell differentiation and survival. Mitochondrial dysfunction can occur as a result of inherited mitochondrial mutations (e.g. Leber's hereditary optic neuropathy and chronic progressive external ophthalmoplegia) or stochastic oxidative damage which leads to cumulative mitochondrial damage and is an important factor in age-related disorders (e.g. age-related macular degeneration, cataract and diabetic retinopathy). Mitochondrial DNA (mtDNA) instability is an important factor in mitochondrial impairment culminating in age-related changes and pathology, and in all regions of the eye mtDNA damage is increased as a consequence of aging and age-related disease. It is now apparent that the mitochondrial genome is a weak link in the defenses of ocular cells since it is susceptible to oxidative damage and it lacks some of the systems that protect the nuclear genome, such as nucleotide excision repair. Accumulation of mitochondrial mutations leads to cellular dysfunction and increased susceptibility to adverse events which contribute to the pathogenesis of numerous sporadic and chronic disorders in the eye.

Affiliation

Department of Molecular and Biomedical Pharmacology, College of Medicine, University of Kentucky, Lexington, Ky., USA.

Journal Details

This article was published in the following journal.

Name: Ophthalmic research
ISSN: 1423-0259
Pages: 179-90

Links

DeepDyve research library

PubMed Articles [21703 Associated PubMed Articles listed on BioPortfolio]

Inherited Disorders of Manganese Metabolism.

While the neurotoxic effects of manganese were recognized in 1837, the first genetic disorder of manganese metabolism was described only in 2012 when homozygous mutations in SLC30A10 were reported to ...

Shoplifting and eating disorders: an anonymous self-administered survey.

To explore the characteristics of eating disorders related to shoplifting behavior and identify the risk and protective factors related to shoplifting among patients with eating disorders.

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.

Recent research has uncovered an important role for de novo variation in neurodevelopmental disorders. Using aggregated data from 9,246 families with autism spectrum disorder, intellectual disability,...

Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia.

We report here the first families carrying recessive variants in the MSTO1 gene: compound heterozygous mutations were identified in two sisters and in an unrelated singleton case, who presented a mult...

Gender related issues in thrombosis and hemostasis.

Many aspects of hemostasis, both primary and secondary, as well as fibrinolysis display sex differences. From a clinical viewpoint, certain differential phenotypic presentations clearly arise within v...

Clinical Trials [4688 Associated Clinical Trials listed on BioPortfolio]

Calf Muscle Strength in Mitochondrial Diseases

Mitochondrial disorders are a group of inherited disorders causing malfunctional mitochondria. Mitochondria are found in every cell of the body, and the disorders therefore give symptoms f...

GDF-15 as a Biomarker for Mitochondrial Disease

Mitochondrial disorders are a group of inherited disorders causing malfunctional mitochondria. Mitochondria are found in every cell of the body, and the disorders therefore give symptoms f...

Mitochondria Inborn Errors of Metabolism and ANT Defects in Mitochondria Diseases

The objective of this research protocol is to continue investigation of the nature and prevalence of mitochondria disease and to aid patients and health care providers in the understanding...

Neurologic Injuries in Adults With Urea Cycle Disorders

Urea cycle disorders (UCDs) are a group of rare inherited metabolism disorders. The purpose of this study is to evaluate how UCD-related neurologic injuries affect adults with one of the m...

Study of Inherited Neurological Disorders

This study is designed to learn more about the natural history of inherited neurological disorders and the role of heredity in their development. It will examine the genetics, symptoms, d...

Medical and Biotech [MESH] Definitions

Inherited disorders characterized by progressive atrophy and dysfunction of anatomically or physiologically related neurologic systems.

These disorders are related to both SCHIZOPHRENIA SPECTRUM AND RELATED DISORDERS and DEPRESSIVE DISORDERS in terms of symptomatology, family history, and genetics. (DSM-V) .

Disorders related to substance abuse, the side effects of a medication, toxin exposure, and ALCOHOL-RELATED DISORDERS.

Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation.

Diseases caused by abnormal function of the MITOCHONDRIA. They may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.

Quick Search
Advertisement
 


DeepDyve research library

Relevant Topic

Urology
Benign Prostatic Hyperplasia (BPH) Erectile Dysfunction Urology Urology is the branch of medicine concerned with the urinary tract and diseases that affect it. Examples include urethritis, urethrostenosis and incontinence. Urology is a su...


Searches Linking to this Article