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Approved research

The impact of variation in the mitochondrial genome and transcriptome on human disease and phenotypes

Principal Investigator: Dr Alan Hodgkinson
Approved Research ID: 46360
Approval date: April 23rd 2019

Lay summary

Mitochondria are organelles that are present in almost every cell in the human body. Their primary role is to generate energy for cellular processes, and to achieve this they rely on genes that are encoded in their own DNA. Much previous research has found that processes occurring in mitochondria, sometimes specifically involving mitochondrial DNA, are altered in many different complex diseases. However, in most cases it is not known whether these altered processes are part of the cause of the disease, or whether they occur as consequences of many changing biological events associated with that disease. In this project we aim to predict variation in mitochondrial processes using genetic information, and then use these predictions to test if any of them are associated with disease. In this way, we hope to understand more about the biology underlying disease processes and risk.