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Gene Review

BCKDHA  -  branched chain keto acid dehydrogenase E1,...

Homo sapiens

Synonyms: 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial, BCKDE1A, BCKDH E1-alpha, Branched-chain alpha-keto acid dehydrogenase E1 component alpha chain, MSU, ...
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Disease relevance of BCKDHA

  • We report the occurrence of three novel mutations in the E1 alpha (BCKDHA) locus of the branched-chain alpha-keto acid dehydrogenase (BCKAD) complex that cause maple syrup urine disease (MSUD) [1].
  • In this report, we have examined the role of p300 in the control of the G(1) phase of the cell cycle in nontransformed immortalized human breast epithelial cells (MCF10A) and fibroblasts (MSU) by using adenovirus vectors expressing p300-specific antisense sequences [2].
  • MSUD: presentation with pseudotumor cerebri and CT abnormalities [3].
  • However, polarizing microscopy of sections stained with NAES method allowed demonstration of CPPD crystals with positive birefringence in pseudogout, MSU crystals with negative birefringence in gout, and calcium hydroxyapatite crystals without birefringence in tumoral calcinosis [4].
  • Heating at 250 degrees for 2 h caused rapid dehydration to anhydrous MSU and rehydration was incomplete up to 17 h [5].

Psychiatry related information on BCKDHA


High impact information on BCKDHA

  • However, the well-ordered MSU-gamma phases made from aluminum nitrate as the preferred aluminum reagent exhibit narrow framework pore size distributions and average pore sizes that are independent of the surfactant size and packing parameter, in accord with a lathlike framework assembled from nanoparticles of regular size and connectivity [8].
  • Chloride ion incorporation tends to disorder the nanoparticle assembly process, leading to a broadening of the slit-shaped framework pores in the final MSU-gamma phases and to the introduction of intra- and interparticle textural mesopores [8].
  • We employed an immunoisolation device that protects allograft, but not xenograft, cells from destruction, to implant a human fibroblast line (MSU 1.2) in athymic rodents [9].
  • BCKDH E1 alpha showed considerable amino acid sequence similarity with pyruvate dehydrogenase E1 alpha, particularly in the region of the two principal phosphorylation sites of these proteins [10].
  • The mechanism of formation of a MSU-type siliceous material from tetraethyl orthosilicate (TEOS) in the presence of the nonionic surfactant tergitol T-15-S-12, sulfuric acid, and sodium fluoride has been investigated using mainly fluorescence probing techniques and, to a lesser extent, dynamic light scattering (DLS) and 29Si NMR spectroscopy [11].

Chemical compound and disease context of BCKDHA

  • The Institution's experience with hypoglycemia in different types of organic acidemias, branched chain amino acidemia (MSUD), and disorders of fructose metabolism was reviewed retrospectively [12].
  • Biological activities of pseudomycin A, a lipodepsinonapeptide from Pseudomonas syringae MSU 16H [13].
  • Succinate, malate and fumarate uptake in purple sulfur bacterium Ectothiorhodospira shaposhnikovii,. strain 1 K MSU, obligatorily depends on the presence of Na+ [14].

Biological context of BCKDHA

  • Localization of the human gene for the El alpha subunit of branched chain keto acid dehydrogenase (BCKDHA) to chromosome 19q13.1----q13.2 [15].
  • The gene encoding the El alpha subunit of branched chain keto acid dehydrogenase (BCKDHA) was mapped to human chromosome region 19q13.1----q13.2 using 3H-labeled cDNA hybridized in situ to human chromosomes [15].
  • The population genetics of the 1312T --> A BCKDHA gene mutation, which causes classical MSUD, are presented in detail [16].
  • It is suggested that the Menonite MSUD is caused by the missense mutation of the E1 alpha subunit of the BCKDH complex [17].
  • The above results support the thesis that the thiamine-responsive MSUD patient (WG-34) is a compound heterozygote at the E2 locus [18].

Anatomical context of BCKDHA

  • We cloned and sequenced cDNAs of the E1 alpha and E1 beta subunits of the branched chain alpha-ketoacid dehydrogenase complex (BCKDH) in two cell lines derived from two different Menonite MSUD patients (GM 1655, GM 1099) [17].
  • In neutrophils stimulated with fMet-Leu-Phe, MSU crystals or by CD32 ligation, the tyrosine phosphorylated proteins were mostly insoluble [19].
  • The rates of release of the various enzymes from PMN leukocytes exposed to MSU crystals were measured [20].
  • Each MSU was analysed for spot protein/creatinine ratio and also for culture and sensitivity if symptoms of a urinary tract infection were present or dipstick included positive nitrites [21].
  • Switching the pattern of secretion of inflammatory mediators with maturating macrophages which contain MSU crystals may be the key to self limitation of gouty attacks [22].

Associations of BCKDHA with chemical compounds

  • During strict metabolic balance, the plasma L-allo-isoleucine/L-isoleucine ratio correlates inversely with the residual activity of the branched-chain 2-oxoacid dehydrogenase in fibroblasts and thus constitutes a relevant in vivo parameter of the severity of the metabolic defect in MSUD patients [23].
  • Catalytic activity of MCM-48-, SBA-15-, MCF-, and MSU-type mesoporous silicas modified with Fe3+ species in the oxidative dehydrogenation of ethylbenzene in the presence of N2O [24].
  • Fluorescence probing investigation of the mechanism of formation of MSU-type mesoporous silica prepared in fluoride medium [11].
  • By contrast, only minimal in vivo oxidation of leucine appears possible in MSUD [25].
  • The relatively small difference between normal and MSUD fibroblasts in vitro as opposed to the striking differences between healthy subjects and MSUD patients in vivo are discussed with respect to the significance of physiological mechanisms participating in the formation and degradation of L-alloisoleucine in man [26].

Physical interactions of BCKDHA

  • We have amplified the cDNA for the transacylase (E2) subunit of the branched-chain alpha-ketoacid dehydrogenase (BCKAD) complex from a thiamine-responsive MSUD cell line (WG-34) by the polymerase chain reaction [18].

Other interactions of BCKDHA


Analytical, diagnostic and therapeutic context of BCKDHA

  • Control groups received only MSU crystals, or no crystals or drugs [28].
  • In MSUD, while early diagnosis and early management remain a basic requirement, intellectual development did not improve as much as expected [29].
  • By use of immunofluorescence, immunogold labelling and crystal morphology studies, albumin was shown to interact preferentially with the (110) faces of MSU crystals [30].
  • Researchers at the INEEL, MSU, LLNL and UCD have undertaken development of MINERVA, a patient-centric, multi-modal, radiation treatment planning system, which can be used for planning and analysing several radiotherapy modalities, either singly or combined, using common treatment planning tools [31].
  • A convenience sample of fifty-one Minnesota State University, Mankato (MSU) dental hygiene graduates were surveyed in this study [32].


  1. Molecular basis of maple syrup urine disease: novel mutations at the E1 alpha locus that impair E1(alpha 2 beta 2) assembly or decrease steady-state E1 alpha mRNA levels of branched-chain alpha-keto acid dehydrogenase complex. Chuang, J.L., Fisher, C.R., Cox, R.P., Chuang, D.T. Am. J. Hum. Genet. (1994) [Pubmed]
  2. Antisense-mediated depletion of p300 in human cells leads to premature G1 exit and up-regulation of c-MYC. Kolli, S., Buchmann, A.M., Williams, J., Weitzman, S., Thimmapaya, B. Proc. Natl. Acad. Sci. U.S.A. (2001) [Pubmed]
  3. MSUD: presentation with pseudotumor cerebri and CT abnormalities. Mantovani, J.F., Naidich, T.P., Prensky, A.L., Dodson, W.E., Williams, J.C. J. Pediatr. (1980) [Pubmed]
  4. Evaluation of crystals in formalin-fixed, paraffin-embedded tissue sections for the differential diagnosis of pseudogout, gout, and tumoral calcinosis. Shidham, V., Chivukula, M., Basir, Z., Shidham, G. Mod. Pathol. (2001) [Pubmed]
  5. Membranolytic effects of crystalline monosodium urate monohydrate. Burt, H.M., Kalkman, P.H., Mauldin, D. J. Rheumatol. (1983) [Pubmed]
  6. Neurometabolic diseases at a national referral center: five years experience at the King Faisal Specialist Hospital and Research Centre. Ozand, P.T., Devol, E.B., Gascon, G.G. J. Child Neurol. (1992) [Pubmed]
  7. Metabolic correlates of learning disability. Nyhan, W.L., Wulfeck, B.B., Tallal, P., Marsden, D.L. Birth Defects Orig. Artic. Ser. (1989) [Pubmed]
  8. Mesostructured gamma-Al(2)O(3) with a lathlike framework morphology. Zhang, Z., Pinnavaia, T.J. J. Am. Chem. Soc. (2002) [Pubmed]
  9. Sustained expression of high levels of human factor IX from human cells implanted within an immunoisolation device into athymic rodents. Brauker, J., Frost, G.H., Dwarki, V., Nijjar, T., Chin, R., Carr-Brendel, V., Jasunas, C., Hodgett, D., Stone, W., Cohen, L.K., Johnson, R.C. Hum. Gene Ther. (1998) [Pubmed]
  10. Nucleotide and deduced amino acid sequence of the E1 alpha subunit of human liver branched-chain alpha-ketoacid dehydrogenase. Zhang, B., Crabb, D.W., Harris, R.A. Gene (1988) [Pubmed]
  11. Fluorescence probing investigation of the mechanism of formation of MSU-type mesoporous silica prepared in fluoride medium. Lesaint, C., Lebeau, B., Marichal, C., Patarin, J., Zana, R. Langmuir : the ACS journal of surfaces and colloids. (2005) [Pubmed]
  12. Comparative frequency and severity of hypoglycemia in selected organic acidemias, branched chain amino acidemia, and disorders of fructose metabolism. Worthen, H.G., al Ashwal, A., Ozand, P.T., Garawi, S., Rahbeeni, Z., al Odaib, A., Subramanyam, S.B., Rashed, M. Brain Dev. (1994) [Pubmed]
  13. Biological activities of pseudomycin A, a lipodepsinonapeptide from Pseudomonas syringae MSU 16H. Di Giorgio, D., Camoni, L., Marchiafava, C., Ballio, A. Phytochemistry (1997) [Pubmed]
  14. Sodium-dependent succinate uptake in purple bacterium Ectothiorhodospira shaposhnikovii. Karzanov, V.V., Ivanovsky, R.N. Biochim. Biophys. Acta (1980) [Pubmed]
  15. Localization of the human gene for the El alpha subunit of branched chain keto acid dehydrogenase (BCKDHA) to chromosome 19q13.1----q13.2. Fekete, G., Plattner, R., Crabb, D.W., Zhang, B., Harris, R.A., Heerema, N., Palmer, C.G. Cytogenet. Cell Genet. (1989) [Pubmed]
  16. Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania. Puffenberger, E.G. American journal of medical genetics. Part C, Seminars in medical genetics. (2003) [Pubmed]
  17. A T-to-A substitution in the E1 alpha subunit gene of the branched-chain alpha-ketoacid dehydrogenase complex in two cell lines derived from Menonite maple syrup urine disease patients. Matsuda, I., Nobukuni, Y., Mitsubuchi, H., Indo, Y., Endo, F., Asaka, J., Harada, A. Biochem. Biophys. Res. Commun. (1990) [Pubmed]
  18. A 17-bp insertion and a Phe215----Cys missense mutation in the dihydrolipoyl transacylase (E2) mRNA from a thiamine-responsive maple syrup urine disease patient WG-34. Fisher, C.W., Lau, K.S., Fisher, C.R., Wynn, R.M., Cox, R.P., Chuang, D.T. Biochem. Biophys. Res. Commun. (1991) [Pubmed]
  19. Preservation of the pattern of tyrosine phosphorylation in human neutrophil lysates. II. A sequential lysis protocol for the analysis of tyrosine phosphorylation-dependent signalling. Gilbert, C., Rollet-Labelle, E., Naccache, P.H. J. Immunol. Methods (2002) [Pubmed]
  20. Kinetics of collagenase and neutral protease release by neutrophils exposed to microcrystalline sodium urate. Cheung, H.S., Bohon, S., Kozin, F. Connect. Tissue Res. (1983) [Pubmed]
  21. A prospective study of the impact of automated dipstick urinalysis on the diagnosis of preeclampsia. Phelan, L.K., Brown, M.A., Davis, G.K., Mangos, G. Hypertension in pregnancy : official journal of the International Society for the Study of Hypertension in Pregnancy. (2004) [Pubmed]
  22. Gout. Pascual, E., Pedraz, T. Current opinion in rheumatology. (2004) [Pubmed]
  23. Interrelation between the metabolism of L-isoleucine and L-allo-isoleucine in patients with maple syrup urine disease. Wendel, U., Langenbeck, U., Seakins, J.W. Pediatr. Res. (1989) [Pubmed]
  24. Catalytic activity of MCM-48-, SBA-15-, MCF-, and MSU-type mesoporous silicas modified with Fe3+ species in the oxidative dehydrogenation of ethylbenzene in the presence of N2O. Kuśtrowski, P., Chmielarz, L., Surman, J., Bidzińska, E., Dziembaj, R., Cool, P., Vansant, E.F. The journal of physical chemistry. A, Molecules, spectroscopy, kinetics, environment & general theory. (2005) [Pubmed]
  25. In vivo enzyme activity in inborn errors of metabolism. Thompson, G.N., Walter, J.H., Leonard, J.V., Halliday, D. Metab. Clin. Exp. (1990) [Pubmed]
  26. On the mechanism of L-alloisoleucine formation: studies on a healthy subject and in fibroblasts from normals and patients with maple syrup urine disease. Schadewaldt, P., Hammen, H.W., Dalle-Feste, C., Wendel, U. J. Inherit. Metab. Dis. (1990) [Pubmed]
  27. Computational disease gene identification: a concert of methods prioritizes type 2 diabetes and obesity candidate genes. Tiffin, N., Adie, E., Turner, F., Brunner, H.G., van Driel, M.A., Oti, M., Lopez-Bigas, N., Ouzounis, C., Perez-Iratxeta, C., Andrade-Navarro, M.A., Adeyemo, A., Patti, M.E., Semple, C.A., Hide, W. Nucleic Acids Res. (2006) [Pubmed]
  28. Does rofecoxib increase TNF-alpha levels? Nalbant, S., Akmaz, I., Kaplan, M., Avsar, K., Solmazgul, E., Sahan, B. Clin. Exp. Rheumatol. (2006) [Pubmed]
  29. Long term outcome of organic acidurias: survey of 105 French cases (1967-1983). Rousson, R., Guibaud, P. J. Inherit. Metab. Dis. (1984) [Pubmed]
  30. A structural approach to pathological crystallizations. Gout: the possible role of albumin in sodium urate crystallization. Perl-Treves, D., Addadi, L. Proc. R. Soc. Lond., B, Biol. Sci. (1988) [Pubmed]
  31. MINERVA: a multi-modality plugin-based radiation therapy treatment planning system. Wemple, C.A., Wessol, D.E., Nigg, D.W., Cogliati, J.J., Milvich, M., Fredrickson, C.M., Perkins, M., Harkin, G.J., Hartmann-Siantar, C.L., Lehmann, J., Flickinger, T., Pletcher, D., Yuan, A., DeNardo, G.L. Radiation protection dosimetry. (2005) [Pubmed]
  32. Promotion of tobacco cessation through dental hygiene education: a pilot study. Monson, A.L., Engeswick, L.M. Journal of dental education. (2005) [Pubmed]
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