Thiamine responsive pyruvate dehydrogenase deficiency in an adult with peripheral neuropathy and optic neuropathy

Sedel, Frédéric; Challe, Georges; Jm, Mayer; Boutron, Audrey; Fontaine, Bertrand; Jm, Saudubray; Brivet, M.

doi:10.1136/jnnp.2007.136630

Cited by 42 publications

(22 citation statements)

References 6 publications

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“…The butanoate pathway also impacts thiamine synthesis, and thiamine deficiency is known to cause optic atrophy and other neurologic problems (Sedel et al 2008). Pyruvate dehydrogenase (lipoamide) beta ( PBHB ), responsible for converting pyruvate to a thiamine precursor, was significantly associated ( p < 0.001) with NPG providing support for a role of thiamine biosynthesis in optic nerve degeneration in glaucoma.…”

Section: Discussionmentioning

confidence: 99%

Hypothesis-independent pathway analysis implicates GABA and Acetyl-CoA metabolism in primary open-angle glaucoma and normal-pressure glaucoma

et al. 2014

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Primary open-angle glaucoma (POAG) is a leading cause of blindness worldwide. Using genome-wide association single-nucleotide polymorphism data from the Glaucoma Genes and Environment study and National Eye Institute Glaucoma Human Genetics Collaboration comprising 3,108 cases and 3,430 controls, we assessed biologic pathways as annotated in the KEGG database for association with risk of POAG. After correction for genic overlap among pathways, we found 4 pathways, butanoate metabolism (hsa00650), hematopoietic cell lineage (hsa04640), lysine degradation (hsa00310) and basal transcription factors (hsa03022) related to POAG with permuted p < 0.001. In addition, the human leukocyte antigen (HLA) gene family was significantly associated with POAG (p < 0.001). In the POAG subset with normal-pressure glaucoma (NPG), the butanoate metabolism pathway was also significantly associated (p < 0.001) as well as the MAPK and Hedgehog signaling pathways (hsa04010 and hsa04340), glycosaminoglycan biosynthesis-heparan sulfate pathway (hsa00534) and the phenylalanine, tyrosine and tryptophan biosynthesis pathway (hsa0400). The butanoate metabolism pathway overall, and specifically the aspects of the pathway that contribute to GABA and acetyl-CoA metabolism, was the only pathway significantly associated with both POAG and NPG. Collectively these results implicate GABA and acetyl-CoA metabolism in glaucoma pathogenesis, and suggest new potential therapeutic targets.

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Section: Discussionmentioning

confidence: 99%

Hypothesis-independent pathway analysis implicates GABA and Acetyl-CoA metabolism in primary open-angle glaucoma and normal-pressure glaucoma

et al. 2014

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“…Thiamine has been used with success in children with PDH deficiency due to alterations within the thiamine binding site of the X-linked PDH-E1α subunit gene (249). Also, an adult patient with peripheral neuropathy and optic neuropathy associated with a PDH deficiency showed improvement in neurological symptoms and visual acuity with 1 g day −1 of thiamine (250). A thiamine deficiency can cause severe neurological degenerative disease and thus is a useful model of neurodegenerative disease (251).…”

Section: Mitochondrial Metabolic Therapeutic Approachesmentioning

confidence: 99%

Mitochondrial Energetics and Therapeutics

Wallace

Fan

Procaccio

2010

Annu. Rev. Pathol. Mech. Dis.

636

488

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Mitochondrial dysfunction has been linked to a wide range of degenerative and metabolic diseases, cancer, and aging. All these clinical manifestations arise from the central role of bioenergetics in cell biology. Although genetic therapies are maturing as the rules of bioenergetic genetics are clarified, metabolic therapies have been ineffectual. This failure results from our limited appreciation of the role of bioenergetics as the interface between the environment and the cell. A systems approach, which, ironically, was first successfully applied over 80 years ago with the introduction of the ketogenic diet, is required. Analysis of the many ways that a shift from carbohydrate glycolytic metabolism to fatty acid and ketone oxidative metabolism may modulate metabolism, signal transduction pathways, and the epigenome gives us an appreciation of the ketogenic diet and the potential for bioenergetic therapeutics.

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“…Suzuki et al have suggested a link between thiamine deficiency and optic neuropathy [9]. It has also been shown that intravenous administration of thiamine in a patient with optic and peripheral neuropathy produced rapid improvement in visual acuity with absence of further episodes of weakness/ataxia [10]. In this case study, the normalization of blood lactate and pyruvate levels indicates the direct therapeutic effect of thiamine administration.…”

Section: Introductionmentioning

confidence: 77%

Sulbutiamine Counteracts Trophic Factor Deprivation Induced Apoptotic Cell Death in Transformed Retinal Ganglion Cells

et al. 2010

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Sulbutiamine is a highly lipid soluble synthetic analogue of vitamin B(1) and is used clinically for the treatment of asthenia. The aim of our study was to demonstrate whether sulbutiamine is able to attenuate trophic factor deprivation induced cell death to transformed retinal ganglion cells (RGC-5). Cells were subjected to serum deprivation for defined periods and sulbutiamine at different concentrations was added to the cultures. Various procedures (e.g. cell viability assays, apoptosis assay, reactive oxygen species analysis, Western blot analysis, flow cytometric analysis, glutathione (GSH) and glutathione-S-transferase (GST) measurement) were used to demonstrate the effect of sulbutiamine. Sulbutiamine dose-dependently attenuated apoptotic cell death induced by serum deprivation and stimulated GSH and GST activity. Moreover, sulbutiamine decreased the expression of cleaved caspase-3 and AIF. This study demonstrates for the first time that sulbutiamine is able to attenuate trophic factor deprivation induced apoptotic cell death in neuronal cells in culture.

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Thiamine responsive pyruvate dehydrogenase deficiency in an adult with peripheral neuropathy and optic neuropathy

Cited by 42 publications

References 6 publications

Hypothesis-independent pathway analysis implicates GABA and Acetyl-CoA metabolism in primary open-angle glaucoma and normal-pressure glaucoma

Hypothesis-independent pathway analysis implicates GABA and Acetyl-CoA metabolism in primary open-angle glaucoma and normal-pressure glaucoma

Mitochondrial Energetics and Therapeutics

Sulbutiamine Counteracts Trophic Factor Deprivation Induced Apoptotic Cell Death in Transformed Retinal Ganglion Cells

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