DIAGNOSIS OF MITOCHONDRIAL DISEASES: UTILITY OF A CLINICAL-MOLECULAR SYSTEMATIZED APPROACH INCORPORATING HIGH PERFORMANCE. SEQUENCING

ROSALES JULIETA; MEDINA NANCY; MARTINEZ NERINA; GONZALEZ MORON DOLORES

Boston

Congreso; Annual Meeting American Academy of Neurology; 2017

AAN

Introduction and Objectives: Mitochondrial diseases encompass a group of multisystemic disorders, affecting the normal function of cellular energetic machine. Diagnosis requires an approach that in addition to a high index of suspicion involves molecular techniques and a careful selection of the tissue being studied. With an overall objective assessment diagnostic approach, we explored the usefulness of a new algorithm and standardized molecular diagnostic tools needed for its implementation.Material and methods: A prospective, analytical, observational study was conducted in a cohort of 73 patients with suspected mitochondrial disorder assisted in our hospital during the period between May 2008 and June 2016. We developed molecular diagnostics tools that included classical monogenic techniques and novel genomic techniques of high performance.Results: We characterized neurological and extra neurological manifestations of our cohort. 61 patients were classified into classical mitochondrial syndromes, being LHON, MELAS and CPEO the most frequent. Following the proposed algorithm, we obtained a molecular diagnostic performance of 51%, identifying mutations in 37 patients. DNAmt mutations were identified in 30 patients. Structural rearrangements in mitochondrial genome in three and four in nuclear genes.Conclusions: Our results confirm the usefulness of the proposed algorithm and the molecular tools used, manifested in a high diagnostic performance. This is of great value to a more efficient and comprehensive medical care of patients and relatives affected by mitochondrial disorders.