Increased ROS generation and SOD activity in heteroplasmic tissues of transmitochondrial mice with A3243G mitochondrial DNA mutation

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Increased ROS generation and SOD activity in heteroplasmic tissues of transmitochondrial mice with A3243G mitochondrial DNA mutation.

The mitochondrial A3243G tRNALeu(UUR) mutation associated with a variety of mitochondrial disorders results in a severe respiratory deficiency, an increase in reactive oxygen species (ROS) production and activities of anti-oxidative enzyme in vitro. However, the phenotypic implications of this mutation have not been described in vivo. Here, mitochondria carrying A3243G transition from the perip...

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Varying loads of the mitochondrial DNA A3243G mutation in different tissues: implications for diagnosis.

Testing for common mutations in mitochondrial DNA (mtDNA), including the A3243G MELAS (mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes) mutation, is routinely done in DNA isolated from blood. Since the blood level of the A3243G mutation may be low in probands and even lower in asymptomatic or oligosymptomatic maternal relatives, we assessed the proportion of A3243G mut...

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Lack of Association of Mitochondrial A3243G tRNALeu Mutation in Iranian Patients with Type 2 Diabetes

Many kinds of mutations in mitochondrial (mt) DNA have been reported to be related to the development of Diabetes Mellitus (DM), this type of diabetes has also been shown to be influenced by other genetic factors and/or environmental factors. Among them, tRNALeu(UUR) and its adjacent mtDNA NADH dehydrogenase subunit 1(ND1) region within the mt genome are linked to high susceptibility to DM. A p...

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ژورنال

عنوان ژورنال: Genetics and Molecular Research

سال: 2008

ISSN: 1676-5680

DOI: 10.4238/vol7-4gmr480