پیرووات دهیدروژناز (لیپوآمید) آلفا ۱
پیرووات دهیدروژناز E1 زیرواحد ساختمانی آلفا، فرم غیرجنسی، میتوکندریایی (انگلیسی: Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial) یک آنزیم است که در انسان توسط ژن «PDHA1» کُدگذاری میشود. کمپلکس پیرووات دهیدروژناز، یک ترکیب آنزیمی ماتریکس میتوکندری و کدشونده در هسته است که ارتباط اولیه مابین گلیکولیز و چرخه اسید سیتریک را، از طریق تبدیل برگشتناپذیر پیروویک اسید به استیل-کوآ فراهم میکند.
زیرواحد E1-آلفا، حاوی جایگاه فعالِ E1 است و نقش مهمی در عملکردِ کمپلکس پیرووات دهیدروژناز ایفا میکند.[۵]
اهمیت بالینی[ویرایش]
جهش در ژن «PDHA1» سبب بروز یکی از انواع کمبود پیرووات دهیدروژناز میگردد. طیف این جهش ژنی از یک جهش بدمعنی (تغییرِ تنها یک نوکلئوتید) تا حذفهای گسترده چندین جفت نوکلئوتید متغیر است.[۶][۷][۸]
منابع[ویرایش]
- ↑ ۱٫۰ ۱٫۱ ۱٫۲ GRCh38: Ensembl release 89: ENSG00000131828 - Ensembl, May 2017
- ↑ ۲٫۰ ۲٫۱ ۲٫۲ GRCm38: Ensembl release 89: ENSMUSG00000031299 - Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Entrez Gene: PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1".
- ↑ Giribaldi G, Doria-Lamba L, Biancheri R, Severino M, Rossi A, Santorelli FM, Schiaffino C, Caruso U, Piemonte F, Bruno C (May 2012). "Intermittent-relapsing pyruvate dehydrogenase complex deficiency: a case with clinical, biochemical, and neuroradiological reversibility". Developmental Medicine and Child Neurology. 54 (5): 472–6. doi:10.1111/j.1469-8749.2011.04151.x. PMID 22142326.
- ↑ Magner M, Vinšová K, Tesařová M, Hájková Z, Hansíková H, Wenchich L, Ješina P, Smolka V, Adam T, Vaněčková M, Zeman J, Honzík T (2011). "Two patients with clinically distinct manifestation of pyruvate dehydrogenase deficiency due to mutations in PDHA1 gene". Prague Medical Report. 112 (1): 18–28. PMID 21470495.
- ↑ Imbard A, Boutron A, Vequaud C, Zater M, de Lonlay P, de Baulny HO, Barnerias C, Miné M, Marsac C, Saudubray JM, Brivet M (Dec 2011). "Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein". Molecular Genetics and Metabolism. 104 (4): 507–16. doi:10.1016/j.ymgme.2011.08.008. PMID 21914562.
- مشارکتکنندگان ویکیپدیا. «Pyruvate dehydrogenase (lipoamide) alpha 1». در دانشنامهٔ ویکیپدیای انگلیسی، بازبینیشده در ۲۶ اکتبر ۲۰۱۸.
بیشتر بخوانید[ویرایش]
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- Brown GK, Otero LJ, LeGris M, Brown RM (Nov 1994). "Pyruvate dehydrogenase deficiency". Journal of Medical Genetics. 31 (11): 875–9. doi:10.1136/jmg.31.11.875. PMC 1016663. PMID 7853374.
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- Hansen LL, Brown GK, Kirby DM, Dahl HH (1991). "Characterization of the mutations in three patients with pyruvate dehydrogenase E1 alpha deficiency". Journal of Inherited Metabolic Disease. 14 (2): 140–51. doi:10.1007/BF01800586. PMID 1909401.
- Koike K, Urata Y, Matsuo S, Koike M (Sep 1990). "Characterization and nucleotide sequence of the gene encoding the human pyruvate dehydrogenase alpha-subunit". Gene. 93 (2): 307–11. doi:10.1016/0378-1119(90)90241-I. PMID 2227443.
- Endo H, Hasegawa K, Narisawa K, Tada K, Kagawa Y, Ohta S (Mar 1989). "Defective gene in lactic acidosis: abnormal pyruvate dehydrogenase E1 alpha-subunit caused by a frame shift". American Journal of Human Genetics. 44 (3): 358–64. PMC 1715432. PMID 2537010.
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- Dahl HH, Hunt SM, Hutchison WM, Brown GK (May 1987). "The human pyruvate dehydrogenase complex. Isolation of cDNA clones for the E1 alpha subunit, sequence analysis, and characterization of the mRNA". The Journal of Biological Chemistry. 262 (15): 7398–403. PMID 3034892.
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- Takakubo F, Cartwright P, Hoogenraad N, Thorburn DR, Collins F, Lithgow T, Dahl HH (Oct 1995). "An amino acid substitution in the pyruvate dehydrogenase E1 alpha gene, affecting mitochondrial import of the precursor protein". American Journal of Human Genetics. 57 (4): 772–80. PMC 1801496. PMID 7573035.
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