New Knowledge About Mitochondrial Proteins May Improve Disease Diagnostics

In a major effort to better understand the molecular workings of mitochondria, researchers discovered how 31 proteins contribute to mitochondrial functionality, identifying two additional factors that may be used to improve diagnostics of mitochondrial disease.

So far, mutations in the genes coding for the two proteins have not been linked to mitochondrial disease in humans. However, since they are absolutely crucial for the assembly of a part of mitochondria, researchers believe that adding the genes to screening panels for mitochondrial disease could help diagnose more people.

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