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Mutations in this gene result in trifunctional protein deficiency or [[long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency]].<ref name="entrez"/>
The most common form of the mutation is G1528C, in which the [[guanine]] at the 1528th position is changed to a [[cytosine]]. The gene mutation creates a protein deficiency that is associated with impaired oxidation of [[Fatty acid|long-chain fatty acids]] that can lead to sudden infant death.<ref>{{cite journal | vauthors = IJlst L, Ruiter JP, Hoovers JM, Jakobs ME, Wanders RJ | title = Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene | journal = The Journal of Clinical Investigation | volume = 98 | issue = 4 | pages = 1028–33 | date = August 1996 | pmid = 8770876 | pmc = 507519 | doi = 10.1172/jci118863 }}</ref> Clinical manifestations of this deficiency can include [[myopathy]], [[cardiomyopathy]], episodes of [[coma]], and [[hypoglycemia]].<ref>{{cite journal | vauthors = Rocchiccioli F, Wanders RJ, Aubourg P, Vianey-Liaud C, Ijlst L, Fabre M, Cartier N, Bougneres PF | title = Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: a cause of lethal myopathy and cardiomyopathy in early childhood | journal = Pediatric Research | volume = 28 | issue = 6 | pages = 657–62 | date = December 1990 | pmid = 2284166 | doi = 10.1203/00006450-199012000-00023 | doi-access = free }}</ref> Long-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency is associated with some pregnancy-specific disorders, including [[Pre-eclampsia|preeclampsia]], [[HELLP syndrome]] (hemolysis, elevated liver enzymes, low platelets), [[hyperemesis gravidarum]], acute fatty liver of pregnancy, and maternal floor infarct of the placenta.<ref>{{cite journal | vauthors = Rakheja D, Bennett MJ, Rogers BB | title = Long-chain L-3-hydroxyacyl-coenzyme a dehydrogenase deficiency: a molecular and biochemical review | journal = Laboratory Investigation; A Journal of Technical Methods and Pathology | volume = 82 | issue = 7 | pages = 815–24 | date = July 2002 | pmid = 12118083 | doi = 10.1097/01.lab.0000021175.50201.46 | doi-access = free }}</ref><ref>{{cite journal | vauthors = Griffin AC, Strauss AW, Bennett MJ, Ernst LM | title = Mutations in long-chain 3-hydroxyacyl coenzyme a dehydrogenase are associated with placental maternal floor infarction/massive perivillous fibrin deposition | journal = Pediatric and Developmental Pathology | volume = 15 | issue = 5 | pages = 368–74 | date = September–October 2012 | pmid = 22746996 | doi = 10.2350/12-05-1198-oa.1 | s2cid = 38407420 }}</ref> Additionally, it has been correlated with [[Acute fatty liver of pregnancy]] (AFLP) disease.<ref>{{cite journal | vauthors = Ibdah JA, Yang Z, Bennett MJ | title = Liver disease in pregnancy and fetal fatty acid oxidation defects | journal = Molecular Genetics and Metabolism | volume = 71 | issue = 1–2 | pages = 182–9 | date = September–October 2000 | pmid = 11001809 | doi = 10.1006/mgme.2000.3065 }}</ref>
From a clinical perspective, HADHA might also be a useful marker to predict resistance to certain types of [[chemotherapy]] in patients with [[lung cancer]].<ref>{{cite journal | vauthors = Kageyama T, Nagashio R, Ryuge S, Matsumoto T, Iyoda A, Satoh Y, Masuda N, Jiang SX, Saegusa M, Sato Y | title = HADHA is a potential predictor of response to platinum-based chemotherapy for lung cancer | journal = Asian Pacific Journal of Cancer Prevention | volume = 12 | issue = 12 | pages = 3457–63 | date = 2011 | pmid = 22471497 }}</ref>
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* {{cite journal | vauthors = Isaacs JD, Sims HF, Powell CK, Bennett MJ, Hale DE, Treem WR, Strauss AW | title = Maternal acute fatty liver of pregnancy associated with fetal trifunctional protein deficiency: molecular characterization of a novel maternal mutant allele | journal = Pediatric Research | volume = 40 | issue = 3 | date = Sep 1996 | pmid = 8865274 | doi = 10.1203/00006450-199609000-00005 | pages=393–8| doi-access = free }}
* {{cite journal | vauthors = Gillingham MB, Matern D, Harding CO | title = Effect of feeding, exercise and genotype on plasma 3-hydroxyacylcarnitines in children with lchad deficiency | journal = Topics in Clinical Nutrition | volume = 24 | issue = 4 | date = Oct 2009 | pmid = 20589231 | doi = 10.1097/TIN.0b013e3181c62182 | pages=359–365 | pmc=2892921}}
* {{cite journal | vauthors = Milewska M, McRedmond J, Byrne PC | title = Identification of novel spartin-interactors shows spartin is a multifunctional protein | journal = Journal of Neurochemistry | volume = 111 | issue = 4 | date = Nov 2009 | pmid = 19765186 | doi = 10.1111/j.1471-4159.2009.06382.x | pages=1022–30| s2cid = 205621232 }}
* {{cite journal | vauthors = Weekes J, Morrison K, Mullen A, Wait R, Barton P, Dunn MJ | title = Hyperubiquitination of proteins in dilated cardiomyopathy | journal = Proteomics | volume = 3 | issue = 2 | date = Feb 2003 | pmid = 12601813 | doi = 10.1002/pmic.200390029 | pages=208–16| s2cid = 19874662 }}
* {{cite journal | vauthors = Bogenhagen DF, Rousseau D, Burke S | title = The layered structure of human mitochondrial DNA nucleoids | journal = Journal of Biological Chemistry | volume = 283 | issue = 6 | date = Feb 2008 | pmid = 18063578 | doi = 10.1074/jbc.M708444200 | pages=3665–75| doi-access = free }}
* {{cite journal | vauthors = Zhang QX, Baldwin GS | title = Structures of the human cDNA and gene encoding the 78 kDa gastrin-binding protein and of a related pseudogene | journal = Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression | volume = 1219 | issue = 2 | date = Oct 1994 | pmid = 7918661 | pages=567–75 | doi=10.1016/0167-4781(94)90091-4}}
* {{cite journal | vauthors = IJlst L, Oostheim W, Ruiter JP, Wanders RJ | title = Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of two new mutations | journal = Journal of Inherited Metabolic Disease | volume = 20 | issue = 3 | date = Jul 1997 | pmid = 9266371 | doi=10.1023/A:1005310903004 | pages=420–2| s2cid = 23046057 | url = http://dare.uva.nl/personal/pure/en/publications/molecular-basis-of-longchain-3hydroxyacylcoa-dehydrogenase-deficiency-identification-of-two-new-mutations(cf89b956-8a1f-4fbf-b408-b09b1dce499e).html }}
* {{cite journal | vauthors = Yagi M, Lee T, Awano H, Tsuji M, Tajima G, Kobayashi H, Hasegawa Y, Yamaguchi S, Takeshima Y, Matsuo M | title = A patient with mitochondrial trifunctional protein deficiency due to the mutations in the HADHB gene showed recurrent myalgia since early childhood and was diagnosed in adolescence | journal = Molecular Genetics and Metabolism | volume = 104 | issue = 4 | date = Dec 2011 | pmid = 22000755 | doi = 10.1016/j.ymgme.2011.09.025 | pages=556–9}}
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