Dec 1, 1992

Mitochondrial DNA analysis in Leber's hereditary optic neuropathy

Ophthalmic Paediatrics and Genetics
P BarboniR Caramazza


A mitochondrial DNA (mtDNA) mutation at nucleotide 11778 has been reported as the genetic defect associated with Leber's hereditary optic neuropathy (LHON), but some pedigrees failed to reveal this mutation. The authors present the genetic analysis of a large Italian LHON family with three probands and 16 asymptomatic maternal relatives. The 11778 mtDNA mutation was present in this family and absent in 52 Italian healthy controls, confirming the association between this genetic defect and LHON. In addition, they found a variable proportion of mutated and wild-type mtDNA (heteroplasmy) in every maternally related family member, including the probands. Different patterns of heteroplasmy were present in the pedigree and lower levels of wild-type mtDNA seemed to correlate with the disease status. Moreover, the authors evaluated the mitotic segregation of mt genomes in blood, hair and urinary tract epithelia of the three patients and they found a similar level of heteroplasmy in these tissues.

Mentioned in this Paper

Optic Atrophies, Hereditary
DNA, Mitochondrial
Genetic Analysis
Genetic Screening Method
Optic Atrophy, Hereditary, Leber
Thyroid Hormone Plasma Membrane Transport Defect
Genetic Pedigree
Entire Urinary Tract
LHON gene

About this Paper

Trending Feeds


Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Synthetic Genetic Array Analysis

Synthetic genetic arrays allow the systematic examination of genetic interactions. Here is the latest research focusing on synthetic genetic arrays and their analyses.

Autism: Motor Learning

A common feature of autism spectrum disorder (ASD) is the impairment of motor control and learning, consistent with perturbation in cerebellar function. Find the latest research on ASD and motor learning here.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

Sexual Dimorphism in Neurodegeneration

There exist sex differences in neurodevelopmental and neurodegenerative disorders. For instance, multiple sclerosis is more common in women, whereas Parkinson’s disease is more common in men. Here is the latest research on sexual dimorphism in neurodegeneration

Protein Localization in Disease & Therapy

Localization of proteins is critical for ensuring the correct location for physiological functioning. If an error occurs, diseases such as cardiovascular, neurodegenerative disorders and cancers can present. Therapies are being explored to target this mislocalization. Here is the latest research on protein localization in disease and therapy.

Genetic Screens in Bacteria

Genetic screens can provide important information on gene function as well as the molecular events that underlie a biological process or pathway. Here is the latest research on genetic screens in bacteria.

Head And Neck Squamous Cell Carcinoma

Squamous cell carcinomas account for >90% of all tumors in the head and neck region. Head and neck squamous cell carcinoma incidence has increased dramatically recently with little improvement in patient outcomes. Here is the latest research on this aggressive malignancy.

Artificial Intelligence in Cardiac Imaging

Artificial intelligence (ai) techniques are increasingly applied to cardiovascular (cv) medicine in cardiac imaging analysis. Here is the latest research.

Related Papers

Middle East African Journal of Ophthalmology
Khaled K Abu-Amero
Advances in Experimental Medicine and Biology
Fabienne BarbetJean-Michel Rozet
Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society
Y MashimaY Oguchi
Journal of the Neurological Sciences
Sana Syed, Vasileios Lioutas
The Kaohsiung Journal of Medical Sciences
Chi-Wu ChangMei-Lin Peng
© 2020 Meta ULC. All rights reserved