Page 17 - MemoriaER-Eng

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Mitochondrial Medicine

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Mitochondrial Medicine Programme: consisting of 8 research groups from di-
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fferent fields specialized in the study of the physiological and functional aspects of é
the mitochondrion in different tissues.
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• Inherited and sporadic encephalomyopathies of mitochondrial DNA (mtDNA) (it
Rare Diseases
would include entities such as KSS, MELAS, MERRF, LHON, NARP/MILS, cardiom- íú
Studied
yopathies, hearing loss and mitochondrial diabetes, etc.).

•
mtDNA maintenance syndromes: depletion syndromes and syndromes with mul-
tiple mtDNA deletions, 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 mi-

tochondrial transcription and translation, syndromes associated with deficiency
of coenzyme q).

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To approach diseases with mitochondria as the physiopathological target affecting
Objectives
an individual’s bioenergy balance. It was created independently of the metabolic

medicine programme because they involve a significant number of groups with
condensed networking work experience that is to be boosted from CIBERER.
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The proposed specific objectives are: 1) to study the genome-mitochondrial com-

munication, 2) to study the physiopathology and mechanisms of disease in cellular
models and iPSC, and 3) to conduct therapeutic research, ranging from the deve-

lopment of animal models up to the preclinical stage, biomarkers, particularly in

neuromuscular pathologies.

Groups Scientific Coordinator: Dr. Miguel ngel Martn Casanueva, U723. 13
• 20
forming the Dr. Ramn Mart Seves, U701. T
• OR
RP
Dr. Jos M. Cuezva , U713. P
• Dr. Rafael Garesse, U717.
RE
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• Dr. Francesc Cardellach, U722. A
NU
• Dr. Julio Montoya, U727. N
A
• Dr. Plcido Navas, U729. R /
E
• Dr. Jorgina Satrstegui, U743. ER
B
• Mnica Bescs, RP Scientific Manager.
CI

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