Page 117 - CIBERER2016-ENG

Most relevant scientific articles
• Bianco A., Martinez-Romero I., Bisceglia L., D’Agruma L., Favia P., Ruiz-Pesini E. et al. Mitochondrial DNA copy number differentiates the leber’s hereditary optic neuropathy affected individuals from the unaffected mutation carriers. Brain. 2016;139(1): e1-.
• Lopez-Gallardo E., Llobet L., Emperador S., Montoya J., Ruiz-Pesini E. Effects of tributyltin chloride on cybrids with or without an ATP synthase pathologic mutation. Environmental Health Perspectives. 2016;124(9):1399-1405.
• Emperador S., Bayona-Bafaluy M.P., Fernandez-Marmiesse A., Pineda M., Felgueroso B., Lopez- Gallardo E. et al. Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy. European Journal of Human Genetics. 2016;25(1):153-156.
• Yubero D, Adin A, Montero R, Jou C, Jiménez-Mallebrera C, García-Cazorla A et al. A statistical algorithm showing coenzyme Q10 and citrate synthase as biomarkers for mitochondrial respiratory chain enzyme activities.Scientific reports. 2016;6(1):15.
• Ortigoza-Escobar J.D., Oyarzabal A., Montero R., Artuch R., Jou C., Jimenez C. et al. Ndufs4 related Leigh syndrome: A case report and review of the literature. Mitochondrion. 2016; 28:73-78.
Hightlights
In addition to the FIS project PI14 / 00005 (2015-2017), we got one from the Association of Patients with Mitochondrial Pathology (AEPMI) for the “Confirmation of Pathogenicity of Mutations in Nuclear DNA Associated with Mitochondrial Pathology” (€ 60,000) and a donation of “Todos con Javier” for the “Pearson Syndrome Study (40,000 euros).
It has been shown:
• that the manifestation of LHON disease, in families with presence of the mutations in all their members,
depends on mtDNA levels;
• through functional studies, the pathogenicity of mutations in the EFTS gene found in a patient with
early-onset ataxia and non-obstructive cardiomyopathy.
• that the GDF-15 is a good marker for mitochondrial diseases.
• that the ATP synthase inhibitor tributyltin chloride (TBTC), which contaminates human food, modifies
the phenotype of pathological mutations in mtDNA causing a more serious dysfunction. In addition, treatment of wild-type cells, without the mutation, causes effects similar to those of untreated mutated cells.
• Patients with sepsis belonging to the haplogroup JT have higher complex IV specific activity and higher survival than patients with sepsis of other haplogroups.
• Patients with sporadic myositis with inclusion bodies have been shown to have multiple deletions or depletion of the mtDNA.
• a statistical algorithm relates the Coenzyme Q and citrate synthase as markers of deficiencies of the respiratory chain.
Mitochondrial Disease Adviser for Patients’ Association (AEPMI) and Ana Carolina Diez Mahou Foundation. J. Montoya is a member of the Oversee Committee of the Italian Network for Mitochondrial Disorders. They have been studied by PCR-RFLP or complete sequencing of mtDNA 88 patients and have found 23 mutations (8 new). Three mutations in nDNA.
Congress communications: 13; Seminars and Lectures: 6; PhD Thesis: 2.
The group also is member of the Instituto de Investigación Sanitaria de Aragón trhough the University of Zaragoza.
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research groups 117