What question did this study set out to answer?

Screen the MT-ATP6 gene in a broad cohort of patients suspected of mitochondrial disorders to evaluate under-recognized disease phenotypes and overcome diagnostic bias.

June 30, 2014Human Molecular GeneticsOpen Access

Expanding the clinical phenotypes of MT-ATP6 mutations

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Screen the MT-ATP6 gene in a broad cohort of patients suspected of mitochondrial disorders to evaluate under-recognized disease phenotypes and overcome diagnostic bias.
Screened the MT-ATP6 gene in a large collection of patients clinically suspected of having mitochondrial DNA disorders.
Performed biochemical, molecular-genetic, and functional assays using patient tissue samples and cybrids in three cases.
Identified three novel pathogenic MT-ATP6 mutations.
Demonstrated that two of the newly discovered mutations presented in patients with phenotypes not classically associated with MT-ATP6 defects.

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Implication

Genetic screening reveals novel MT-ATP6 mutations in patients with atypical mitochondrial disease, highlighting the need to sequence this gene even when standard respiratory tests appear normal.

Cite This Study

López‐Gallardo et al. (2014) studied this question.

synapsesocial.com/papers/6a9b218afb75abedfffceefe https://doi.org/10.1093/hmg/ddu339

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Implication

Genetic screening reveals novel MT-ATP6 mutations in patients with atypical mitochondrial disease, highlighting the need to sequence this gene even when standard respiratory tests appear normal.

Expanding the clinical phenotypes of MT-ATP6 mutations

Key Points

Discussion

Implication

Cite This Study

Expanding the clinical phenotypes of MT-ATP6 mutations

Key Points

Discussion

Implication

Cite This Study