MITOMICS aims to determine which RNA-Seq results (from muscle or fibroblasts) are the most informative for the interpretation of VUS identified by WES for patients suspected of mitochondrial myopathy. Analysis of RNA-Seq and WES results will performed with a computational approach using an autoencoder-based method
Patients suspected of a mitochondrial disease with muscular signs (clinical, histological or biochemical)
Patients with negative mtDNA and WES NGS in trio
Patients with routine muscle and skin biopsies available
Blood samples from parents and / or relatives available for segregation studies
Patients with suspected mitochondrial disease without muscle involvement
Patients for whom the mtDNA NGS and WES have not been performed
Patients with suspected mitochondrial disease with causal variant identified
Refusal to sign the informed consent for the study
Patients are seen in consultation by the genetic doctors of the different centers as part of the usual management of their mitochondrial disease.
Cohort
Other
diagnosis of mitochondrial myopathy
Genetic• Determination of the presence of specific molecular signatures at the RNA level in muscles and fibroblasts from patients
number of variations interpreted as responsible for the Mitochondrial diseases
• Comparison of the number of variations (splicing variant, expression level) or VUS, identified in WES, interpreted as responsible for the disease (class 4 or 5 variants) thanks to the RNA-Seq carried out at from a muscle biopsy or RNA-Seq performed from fibroblasts
RNA in mitochondiral deseases
Patients for whom the RNA-Seq could not be performed and reason for failure
variation of RNA in mitochondiral deseases
Variations identified by RNA-Seq, allowing interpretation of WES data (splicing aberrants, monoallelic expressions, etc.)
specific molecular signatures of mitochondiral deseases
Determination of the presence of specific molecular signatures at the RNA level in muscles and fibroblasts from patients
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