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Possible culprits in genetic diseases, cancer, and ageing found

14-May-2020

Key points from article :

Mutations within mitochondrial genome impact age-related conditions, genetic diseases.

Team investigated if mitochondrial mutations are due to mistakes made during DNA synthesis.

Enzymes crucial for DNA replication failed to work properly when they encountered a G4 structure.

This leads to errors in newly formed DNA resulting in damaged mitochondrial genomes.

Data from blood cells of 2,700 individuals from SardiNIA and InCHIANTI studies.

Found that these stable G4 DNA structures contained most of the mitochondrial DNA mutations.

Study helps develop potential treatment strategies for mitochondrial diseases.

As well as to identify additional genetic risk factors.

Research by NIA Intramural Research Program (IRP), published in Human Molecular Genetics.

Research shows it could be caused by mitochondrial DNA mutations

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Journal

Peer-reviewed journal

Institute

Conducting and supporting research on aging and the health and well-being of older people.