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New Study Digs Deep into mtDNA to Better Understand Patterns of Genetic Mosaicism

Although mitochondria are ubiquitous organelles, they exhibit tissue-specific morphology, dynamics and function. Therefore, the scientists at the University of Queensland have now dug deeper into them to find out the rates of genetic mutations in mitochondrial DNA vary across differing tissue types, with the highest rate occurring in reproductive cells.

Mitochondria are known as the cell’s power plant – they are found in all animal and human cells – and in humans they generate about 90 per cent of the body’s energy from the food we eat and the oxygen we breathe,” Dr Steven Zuryn, who led the study said.

In addition to regular DNA, which is contained in the nucleus, each cell also contains DNA in the mitochondria.

“Mitochondrial DNA is only passed down from the mother’s side, and transmits the genetic information from one generation to the next.

They have now described a robust approach to isolate mitochondria from specific cells of diverse tissue systems in Caenorhabditis elegans. C. elegans share about 60-80% of the same genes as humans which could enable them to shed light on the importance of mechanisms regulating the frequency of mitochondrial DNA mutations

in different cells and organs.

The study involved an exceptionally pure method developed by the researchers in order to isolate mitochondria from specific cells in the body to study them in detail. “We now suspect that there is a mechanism in all animals that can filter out these mutations before they are passed to future offspring, which could otherwise cause a multitude of diseases affecting the brain,” Dr Zuryn said.

In humans, mutations in mitochondrial DNA can cause rare but devastating diseases, especially in organs such as the brain, which relies heavily on mitochondria for energy.

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