Carried by: Filnemus
References:
Clinician(s): Magalie BARTH, Annabelle CHAUSSENOT, Manuel SCHIFF
Biologist(s): Vincent PROCACCIO, Cécile ROUZIER
Presentation
Mitochondrial disorders result from a dysfunction of mitochondrial energy metabolism. They are highly heterogeneous both clinically and genetically. They can begin at any age and vary greatly in severity. They may be linked to mutations in mitochondrial DNA or nuclear DNA. This pre-indication will concern suspected mitochondrial diseases for which a mtDNA mutation has been ruled out beforehand.
Criteria before considering a discussion in MDM-FMG
Inclusion criteria:
- Clinical, MRI, metabolic, and pathological criteria suggestive of mitochondrial disease
- Negative mitochondrial DNA sequencing (depending on the patient’s phenotype, to be discussed in a multidisciplinary team meeting. Note that the heteroplasmy rate may vary depending on the tissue, and a variant may be missed in a blood test)
- Targeted panels of optional mitochondrial nuclear genes
- Blood samples from index case and parents (DNA possible if index case is DCD)
- In cases with a severe prognosis, propose tissue biopsies (at least skin, if possible muscle)
Exclusion criteria:
- Insufficient criteria supporting mitochondrial disease
Genome Sequencing in diagnostic strategy
MDM cartography
MDM
Type of the MDM
City of the coordinator
Name, first name, and email of the contact
RCP Mito-Necker
Inter-regional
Paris
Necker :
Julie STEFFANN
Claire-Marine BERAT
Giulia BARCIA
Manuel SCHIFF
RCP Mito-Angers
Inter-regional (CHU Angers, Tours, Nantes, Rennes, Brest, Caen, Lille)
Angers
RCP Mito-Bordeaux
Inter-regional (Bordeaux, Dijon, Limoges, Toulouse, Clermont-Ferrand, Poitiers and Overseas Territories except Martinique)
Bordeaux
Marie-Laure NEGRIER
marie-laure.martin-negrier@u-bordeaux.fr
Caroline ESPIL
caroline.espil@chu-bordeaux.fr
Aurélien TRIMOUILLE
RCP Mito-Nice
Inter-regional (Nice, Marseille, Toulouse, Montpellier, Lyon, Strasbourg, Grenoble, Martinique)
Nice