Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

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Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal-onset mitochondrial disease

ABSTRACT: The PDE12 gene codes for the poly(A)-specific exoribonuclease, involved in the quality control of mitochondrial non-coding RNAs. Here, we report that disease-causing PDE12 variants in three unrelated families are associated with mitochondrial respiratory chain deficiencies. Clinically, they presented in utero and within the neonatal period with muscle and brain involvement leading to marked cytochrome c oxidase (COX) deficiency in muscle and severe lactic acidosis. To analyze perturbations in specific cellular pathways contributing to pathogenesis in our patient cohort, we used Affymetrix Clariom D transcriptome arrays to study the RNA levels in fibroblasts derived from two patient (Patient 2 and patient 3), comparing these to age-matched controls.

ORGANISM(S): Homo sapiens

SUBMITTER: Wei-Lin Huang

PROVIDER: E-MTAB-14251 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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