Mitochondrial Medicine and Inherited Metabolic Programme

Mitochondrial Medicine and Inherited Metabolic Programme: composed of 17 research groups from different fields: clinical genetics, molecular genetics and molecular and cellular physiology.

Rare diseases studied

• Inherited Metabolic and Mitochondrial Diseases: Lysosomal diseases, Organic acidurias, Glycosylation deficiencies, Peroxisomal diseases
• Inherited sporadic encephalomyopathies of the mitochondrial DNA (mtDNA). (This would cover such entities as the KSS, MELAS, MERRF, LHON, NARP/MILS, myocardiopathies, mitochondrial deafness and diabetes etc.).
• mtDNA maintenance syndromes:depletion syndromes and syndromes with multiple deletions of the mtDNA such as MNGIE; PEO, SANDO, S. Alpers, etc..
• Diseases of the OXPHOS system associated with nuclear and assembly genes (alterations of OXPHOS subunits and assembly factors, pathologies affecting mitochondrial translation and transcription, syndromes associated with Q coenzyme deficiency).

Objective

This programme focuses on genetic disorders affecting the metabolism of simple and complex molecules and involving different cellular organelles.

Specifically, it is intended to define the genetic cause and pathophysiology of these pathologies that affect the synthesis, metabolism, transport and storage of biomolecules. In general, they are major diseases, with multi-organ involvement, and in many cases the expectation and quality of life of patients is significantly reduced.

Based on the definition and in-depth knowledge of these clinical phenotypes, in addition to evaluating the clinical response to currently available treatments, innovative therapies are being developed, such as the use of chaperones to facilitate enzymatic functionality.

Research groups of the PdI