Uncovering hidden mitochondrial mutations in single cells

A high-throughput single-cell single-mitochondrial genome sequencing technology known as iMiGseq has provided new insights into mutations of mitochondrial DNA (mtDNA) and offers a platform for assessing mtDNA editing strategies ...

First mouse model with mitochondrial tRNALeu mutation developed

Studying the role of mitochondria—the specialized structures within cells responsible for energy production—in metabolic diseases has been difficult because of a lack of animal models with the necessary mitochondrial ...

Research team first to develop 3D structure of twinkle protein

Researchers from the National Institutes of Health have developed a three-dimensional structure that allows them to see how and where disease mutations on the twinkle protein can lead to mitochondrial diseases. The protein ...

Are egg cells in aging primates protected from mutations?

New mutations occur at increasing rates in the mitochondrial genomes of developing egg cells in aging rhesus monkeys, but the increases appear to plateau at a certain age and are not as large as those seen in non-reproductive ...

Scientists reveal the genetic basis of mitochondrial diseases

Mutations in genes encoding mitochondrial aminoacyl-tRNA synthetases are linked to diverse diseases. However, the precise mechanisms by which these mutations affect mitochondrial function and disease development are not fully ...

Tracking inheritance of human mitochondrial DNA

New insight into how genetic information stored in human mitochondria is passed from one generation to the next could have important implications for genetic counseling of women planning pregnancies, according to a study ...

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