Difference between revisions of "Guillet 2010 Neurogenetics"
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{{Publication | {{Publication | ||
|title=Guillet V, Gueguen N, Verny C, Ferre M, Homedan C, Loiseau D, Procaccio V, Amati-Bonneau P, Bonneau D, Reynier P, Chevrollier A (2010) Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot-Marie-Tooth type 2A disease. Neurogenetics 11: 127- | |title=Guillet V, Gueguen N, Verny C, Ferre M, Homedan C, Loiseau D, Procaccio V, Amati-Bonneau P, Bonneau D, Reynier P, Chevrollier A (2010) Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot-Marie-Tooth type 2A disease. Neurogenetics 11:127-33. | ||
|info=[http://www.ncbi.nlm.nih.gov/pubmed/19618221 PMID: 19618221] | |info=[http://www.ncbi.nlm.nih.gov/pubmed/19618221 PMID: 19618221] | ||
|authors=Guillet V, Gueguen N, Verny C, Ferre M, Homedan C, Loiseau D, Procaccio V, Amati-Bonneau P, Bonneau D, Reynier P, Chevrollier A | |authors=Guillet V, Gueguen N, Verny C, Ferre M, Homedan C, Loiseau D, Procaccio V, Amati-Bonneau P, Bonneau D, Reynier P, Chevrollier A | ||
| Line 14: | Line 14: | ||
|tissues=Nervous system | |tissues=Nervous system | ||
|preparations=Intact cells | |preparations=Intact cells | ||
|enzymes=Adenine | |enzymes=Adenine nucleotide translocase, Complex II;succinate dehydrogenase, Uncoupling protein | ||
|injuries=Mitochondrial | |injuries=Mitochondrial disease | ||
|instruments=Oxygraph-2k | |instruments=Oxygraph-2k | ||
|additional=Spectrophotometry; Spectrofluorimetry | |additional=Spectrophotometry; Spectrofluorimetry | ||
|discipline=Mitochondrial Physiology | |discipline=Mitochondrial Physiology | ||
}} | }} | ||
Revision as of 15:44, 17 February 2015
| Guillet V, Gueguen N, Verny C, Ferre M, Homedan C, Loiseau D, Procaccio V, Amati-Bonneau P, Bonneau D, Reynier P, Chevrollier A (2010) Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot-Marie-Tooth type 2A disease. Neurogenetics 11:127-33. |
Guillet V, Gueguen N, Verny C, Ferre M, Homedan C, Loiseau D, Procaccio V, Amati-Bonneau P, Bonneau D, Reynier P, Chevrollier A (2010) Neurogenetics
Abstract: Charcot-Marie-Tooth type 2A disease (CMT2A), a dominantly inherited peripheral neuropathy, is caused by mutations in MFN2, a mitochondrial fusion protein. Having previously demonstrated a mitochondrial coupling defect in CMT2A patients' fibroblasts, we here investigate mitochondrial oxygen consumption and the expression of adenine nucleotide translocase (ANT) and uncoupling proteins from eight other patients with the disease. The mitochondrial uncoupling was associated with a higher respiratory rate, essentially involving complex II proteins. Furthermore, a twofold increase in the expression of ANT led to the reduced efficiency of oxidative phosphorylation in CMT2A cells, suggesting that MFN2 plays a role in controlling ATP/ADP exchanges. • Keywords: GDAP1, Autosomal dominant Charcot-Marie-Tooth disease, CMT2K . Mitochondrial dynamics, Complex I
• O2k-Network Lab: FR_Angers_Douay O
Labels:
Stress:Mitochondrial disease Organism: Human Tissue;cell: Nervous system Preparation: Intact cells Enzyme: Adenine nucleotide translocase, Complex II;succinate dehydrogenase, Uncoupling protein
HRR: Oxygraph-2k
Spectrophotometry; Spectrofluorimetry
