Page 150 - MemoriaER-Eng

RESEARCH GROUPS

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PROGRAMME:
Group U743

Mitochondrial Medicine

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Group Members
Lead Researcher

STAFF MEMBERS
Satrstegui Gil-Delgado, Jorgina
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Amigo de la Huerga, Ignacio
Martnez Valero, Paula*
Contact:

Dpto. de Biologa Molecular, Centro de Biología ASSOCIATED MEMBERS
Contreras Balsa, Laura
Molecular “Severo Ochoa” (CBMSO) CSIC-UAM,
Universidad Autnoma de Madrid, Madrid. · C/ Nicolás Cabrera, 1 Del Arco Martnez, Araceli
Campus Cantoblanco, Madrid. · Phone: (+34) 91 196 46 21 Pardo Merino, Beatriz

E.mail: [email protected]; [email protected]
Traba Domnguez, Javier

Main lines of research

• Global Cerebral Hipomyelination. Pathogenic mechanisms of the disease

caused by mutations in aralar/AGC1 studied with the use of AGC1 KO mice.

Effects on myelination, formation of brain N-acetyl-aspartate, glial glutamate
and glutamine synthesis. Possible implication of aralar/AGC1 inl diseases

characterized by low levels of brain N-acetylaspartate.

• Charcot-Marie-Tooth disease. Alterations in calcium signaling mechanisms,
particularly calcium signaling to mitochondria in forms of CMT caused by mu-

tations in GDAP1 and MFN2.
13
• 20
Mitochondrial pathology: 1. Possible implication of SCaMCs in mitochondrial T
diseases characterized by deletions in DNAmit deletions and ophthalmoplegia, R
PO
2) Possible implication of mutations in SCaMC-3 in human disease associated E
with deletions or depletion of liver, but not muscle, DNAmit.
L R
A
• Regulation of calcium signaling to mitochondria and calcium handling by mi- NU
N
tochondria. Role of the calcium uniporter and calcium regulated mitochondrial A
carriers Aralar/AGC1 and SCaMCs. Role of these carriers in deregulation of /
ER
mitochondrial calcium. Involvement in human pathology.
ER
B
• Tissue-specific mechanisms of oxidative phosphorylation regulation.
CI
• Mitochondrial retrograde signaling to nuclei as a possible target in mitochon-

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* At the expense of Project
drial pathologies.