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Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
Published on: February 10, 2023
[Leigh syndrome caused by the mitochondrial DNA G14459A mutation in a Mexican family]
A Gutiérrez1, A Saldaña-Martínez, R García-Ramírez
1Departamento de Ciencias Biológicas, Universidad Nacional Autónoma de México, México DF, México.
Introduction:
Leigh syndrome is a neurodegenerative and progressive disease that appears usually in childhood due to defects in nuclear or mitochondrial genome. The mutation G14459A in mitochondrial DNA has been associated previously to Leber hereditary optic neuropathy and recently to Leigh syndrome.
Case Report:
A 10 months-old Mexican girl diagnosed of Leigh syndrome. Molecular-genetic studies detected the mutation G14459A in a percentage close to homoplasmy and in low heteroplasmy in her mother. The rest of the maternally related family members analyzed were negative.
Conclusion:
The G14459A mutation, although not very frequently associated to Leigh syndrome, should be analyzed in patients that do not present the most common point mutations.
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