Deletion of a 4977-bp Fragment in the Mitochondrial Genome Is Associated with Mitochondrial Disease Severity

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Deletion of a 4977-bp Fragment in the Mitochondrial Genome Is Associated with Mitochondrial Disease Severity

Large deletions in mitochondrial DNA (mtDNA) may be involved in the pathogenesis of mitochondrial disease. In this study, we investigated the relationship between a 4,977-bp deletion in the mitochondrial genome (ΔmtDNA(4977)) and the severity of clinical symptoms in patients with mitochondrial disease lacking known point mutations. A total of 160 patients with mitochondrial disease and 101 heal...

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The Mitochondrial DNA 4977-bp Deletion in Patients with Colorectal Cancer: a Case-control Study in Iran

Colorectal cancer (CRC) is the third leading cause of cancer-related death worldwide, and its occurrence can be ascribed to genetic susceptibility. Mitochondrial DNA 4977-bp (mtDNA 4977), as the most described mtDNA deletion, has been long proposed to be involved in various types of cancers. However, a few studies on mtDNA 4977-bp deletion in Iranian patients with CRC have been reported. The cu...

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Mitochondrial DNA 4977 BP deletion mutations in lung carcinoma.

BACKGROUND The most common and also the most often assayed mtDNA deletion mutation, degrees mtDNA 4,977 sub has been demonstrated in various types of human cancer. However, knowledge about degrees mtDNA 4,977 in lung carcinoma is poor. AIM To study the 4,977 bp deletions of mitochondrial DNA ( degrees mtDNA 4,977) in lung cancer, adjacent histologically normal and normal lung tissue and its p...

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Mitochondrial DNA content and 4977 bp deletion in unfertilized oocytes.

Previous studies analysing the incidences of mitochondrial DNA (mtDNA) deletions and mtDNA content in unfertilized oocytes in relation to donors' age have been controversial. The objective of the study was to compare these two parameters in unfertilized oocytes and relate them to the donors' age. Fifty-two women donated 155 unfertilized metaphase II (MII) oocytes. The incidence of 4977 bp delet...

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Mitochondrial DNA 4977 bp deletion is a common phenomenon in hair and increases with age.

Mitochondrial DNA (mtDNA) is believed to be particularly susceptible to oxidative damage during aging, resulting in mtDNA point mutations, duplications, and deletions. Although mtDNA deletions have been reported in various human tissues, e.g., the brain, heart, and skeletal muscle, little is known about the occurrence in hair. Therefore, we screened for the presence of mtDNA 13162 bp, 10422 bp,...

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ژورنال

عنوان ژورنال: PLOS ONE

سال: 2015

ISSN: 1932-6203

DOI: 10.1371/journal.pone.0128624