Page 115 - MemoriaER-Eng

www.ciberer.es

•
Most relevant lucia a, quinliVan r, Wakelin a, Martín Ma, andreu al. The ‘McArdle paradox’: exercise is a
good advice for the exercise intolerance. Br J Sports Med; 2013; 47:728-9.
scientific
• d a, r h, G-s Mt, q-F P, G-c i, M-h
articles
elMiroiVeraarcíailVauiJadarailearcíaonsueGraartínernández
e, siMón r, Moreno-izquierdo a, Martín Ma, arenas J, Martínez-azorín. Whole-Exome Se-
quencing Identifies a Mutation of the Mitochondrial MT-ND1 Gene Associated with epi-

leptic encephalopathy: West síndrome evolving to Lennox-Gastaut síndrome. Hum Mutat
2013; 34:1623-7.

• V P, b b, G-P P, G-P c, b a, G-b M, G-
illarretónarcíaaVíaonzálezáraMoslázquezóMezuenoarcía
silVa t, García-consueGra i, Martín Ma, Garesse r, bornstein b, Gallardo Me. Cardiac Dys-
function in Mitochondrial Disease. Circ J 2013; 77:2799-806.

•
barrientos a, uGalde c. I Function, Therefore I Am: Overcoming Skepticism about Mito-
chondrial Supercomplexes. Cell Metab 2013; 18:147-9.
ñ
• García-redondo a, dols-icardo o, roJas-García r, esteban-Pérez J, cordero-Vázquez P, Mu-

oz-blanco Jl, catalina i, González-Muñoz M,Varona l, sarasola da P, larrodé P, caPablo Jl,
P-c J, G M, M y, G M, M-l s, r a, M-e c, á
ascualalVetoñiorGadouitartorenoaGunauedaartínsteFanía
ceMilln c, blesa r, lleó a. Analysis of the C9orf72 gene in patients with amyotrophic la-
teral sclerosis in Spain and different populations worldwide. Hum Mutat 2013; 34:79-82.

In 2013 PIs of the group led 5 active projects of National Plan-ISCIII related to
Highlights
the lines of research: mitochondrial disorders, metabolic exercise intolerance and
amyotrophic lateral sclerosis (ALS):

• Biomarkers and pathogenesis of ALS: Gene expression in lymphocytes and be-

havior of olfactory neuroepithelium stem cells;

• Development of a new strategy for the genetic diagnosis of mitochondrial dis-
eases that are caused by nuclear genes;

• Identification and validation of biomarkers of mitochondrial diseases;

• Rate of oxygen consumption in mitochondrial diseases: from cell culture to clini-
cal practice;

• Mitochondrial Medicine: a strategy for molecular genetics identification of OX-
PHOS patients (group coordinator; coordinated CIBERER U701).

We lead the WP Methodology and Registry EAHC the EU-project: European regis-

try of patients with McArdle disease and very rare muscle glycogenolytic disorders

(MGD) (PR-MDMGD). We headed non-public funded projects related mitochondrial
disease and ALS (Biocross, Fundacion Mutua Madrileña, FUNDELA); and are also

involved in Biosciences-Com. Madrid consortia where other CIBERER groups are
involved U743; U717; U713. We participate in a clinical trial for ALS: Memantine

(Ebixa) functional disability in amyotrophic lateral sclerosis. We lead an intra-

mural project CIBERER (ACCI) in collaboration with U701 and U727) to identify 13
genetic modifiers of homoplasmic mutations. The group as a clinical laboratory 20
T
has achieved to move into the testing portfolio of our hospital the method to de- OR
P
termine the mtDNA depletion that was previously approved in CIBERER as part RE
of objectives of the Research Program Mitochondrial Medicine. The group is fo- L
A
cusing on the use of new genetic methods and on the searching for biomarkers NU
to improve diagnosis of mitochondrial diseases, and also is trying to understand N
A
its pathophysiology and to identify therapeutic targets using cellular and animal R /
E
models; and it is also centered in the understanding the pathophysiology and the ER
exercise as therapy in McArdle disease.
B
CI

115