Male and Females >18 years at the time of screening
Patients must have proven genetic disease (confirmed by assessment of heteroplasmy in blood and urine samples) of the m.3243 A>G mutation.
Capacity to provide informed consent taken before any study related activities.
Ability and willingness to adhere to the protocol, including all appointments.
Ability to read and converse in English.

Male and Females >18 years at the time of screening
Capacity to provide informed consent taken before any study related activities.
Ability and willingness to adhere to the protocol, including all appointments.
Ability to read and converse in English.

DNA will be extracted from stool samples and the 16S rRNA gene (V4 region) will be sequenced. The DNA will then be stored in the Newcastle Mitochondrial Research Biobank

Mitochondrial Diseases

Grainne Gorman

Mitochondrial and Microbiota Relationship

Can Metagenomic and Metadata be Combined Using Bioinformatics and Computational Biology Methods to Personalise Patient Treatment.

DNA will be extracted from stool samples and the 16S rRNA gene (V4 region) will be sequenced.

ophthalmoplegia/vähk

Mitochondrial and Microbiota Relationship

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