High-dose vitamin therapy stimulates variant enzymes with decreased coenzyme binding affinity (increased Km): Relevance to genetic disease and polymorphisms

American Journal of Clinical Nutrition

Volumn 75, Issue 4, 2002, Pages 616-658

  Ames, Bruce N ^a,b   Elson Schwab, Ilan ^a,b   Silver, Eli A ^a  

^a University of California Berkeley   (United States)

^b CHILDREN S HOSPITAL OAKLAND RESEARCH INSTITUTE   (United States)

Author keywords

Alcohol intolerance; Autism; Binding defect; Enzyme mutations; Favism; Genetic disease; Migraine headaches; Review; Single nucleotide polymorphisms; Therapeutic vitamin use

Indexed keywords

4 AMINOBUTYRIC ACID; 5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); ALDEHYDE DEHYDROGENASE; ALPHA TOCOPHEROL; BIOTIN; CARNITINE; COBALAMIN; ERGOCALCIFEROL; FOLIC ACID; GLUCOSE 6 PHOSPHATE DEHYDROGENASE; GLYCINE; NICOTINIC ACID; ORNITHINE OXOACID AMINOTRANSFERASE; PANTOTHENIC ACID DERIVATIVE; POTASSIUM; PYRIDOXINE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE (PHOSPHATE) DEHYDROGENASE (QUINONE); REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE; RIBOFLAVIN; S ADENOSYLMETHIONINE; SERINE; SEROTONIN; TETRAHYDROBIOPTERIN; THIAMINE; THIOCTIC ACID; THYROID HORMONE; UNINDEXED DRUG; VITAMIN; VITAMIN K GROUP; ZINC;

ALZHEIMER DISEASE; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; AUTISM; BINDING AFFINITY; COENZYME; DIET SUPPLEMENTATION; ENZYME BINDING; ENZYME DEFECT; ENZYME POLYMORPHISM; FAVISM; HUMAN; METABOLIC REGULATION; MIGRAINE; NUCLEOTIDE SEQUENCE; NUTRITIONAL REQUIREMENT; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; STRUCTURE ACTIVITY RELATION; VITAMIN INTAKE; VITAMIN SUPPLEMENTATION;

EID: 0036199911     PISSN: 00029165     EISSN: None     Source Type: Journal    
DOI: 10.1093/ajcn/75.4.616     Document Type: Review

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176. Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations
177. Methylenetetrahydrofolate reductase polymorphism, plasma folate, homocysteine, and risk of myocardial infarction in US physicians
178. NAD(P)H:quinone oxidoreductase 1 (NQO1): Chemoprotection, bioactivation, gene regulation and genetic polymorphisms
179. Association of the NAD(P)H quinone oxidoreductase 609C→T polymorphism with a decreased lung cancer risk
180. Lung cancer in Mexican-Americans, African-Americans is associated with the wild-type genotype of the NAD(P)H, quinone oxidoreductase polymorphism
181. Identification of an NAD(P)H quinone oxidoreductase polymorphism and its association with lung cancer and smoking
182. Polymorphisms in the NAD(P)H:quinone oxidoreductase gene and small cell lung cancer risk in a UK population
183. The NAD(P)H:quinone oxidoreductase 1 gene polymorphism and lung cancer: Differential susceptibility based on smoking behavior
184. Molecular characterization of binding of substrates and inhibitors to DT-diaphorase: Combined approach involving site-directed mutagenesis, inhibitor-binding analysis, and computer modeling
185. Catalytic properties of a natural occurring mutant of human NAD(P)H:quinone acceptor oxidoreductase (DT-diaphorase), Pro 187 to Ser
186. Characteristics of human protoporphyrinogen oxidase in controls and variegate porphyrias
187. Recurrent missense mutation in the protoporphyrinogen oxidase gene underlies variegate porphyria
188. Chapter 47. Nuclear-encoded defects of the mitochondrial respiratory chain, including glutaric acidemia type II
189. Expression and characterization of two pathogenic mutations in human electron transfer flavoprotein
190. Three-dimensional structure of human electron transfer flavoprotein to 2.1-Å resolution
191. Neuropsychiatric manifestations of defect in mitochondrial beta oxidation response to riboflavin
192. Mutations in electron transfer flavoprotein, ubiquinone oxidoreductase (ETF, QO) in glutaric acidemia type II (GA2)
193. The multiple acyl-coenzyme A dehydrogenation disorders, glutaric aciduria type II and ethylmalonic-adipic aciduria. Mitochondrial fatty acid oxidation, acyl-coenzyme A dehydrogenase, and electron transfer flavoprotein activities in fibroblasts
194. Riboflavin-responsive glutaric aciduria type II presenting as a leukodystrophy
195. Riboflavin-responsive ethylmalonic-adipic aciduria
196. Ethylmalonic adipic aciduria - A treatable hepatomuscular disorder in two adult brothers
197. Glutaric aciduria type II: Observations in seven patients with neonataland late-onset disease
198. Molecular characterization of variant alpha-subunit of electron transfer flavoprotein in three patients with glutaric acidemia type II and identification of glycine substitution for valine-157 in the sequence of the precursor, producing an unstable mature protein in a patient
199. A new variant of glutaric aciduria type II: Deficiency of beta-subunit of electron transfer flavoprotein
200. Atypical riboflavin-responsive glutaric aciduria, and deficient peroxisomal glutaryl-CoA oxidase activity: A new peroxisomal disorder
201. Riboflavin-responsive epilepsy in a patient with SER209 variant form of short-chain acyl-CoA dehydrogenase
202. Normalization of short-chain acylcoenzyme A dehydrogenase after riboflavin treatment in a girl with multiple acylcoenzyme A dehydrogenase-deficient myopathy
203. C6-C10-dicarboxylic aciduria: Investigations of a patient with riboflavin responsive multiple acyl-CoA dehydrogenation defects
204. Stridor as the major presenting symptom in riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency
205. A case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II)
206. Treatment of complex I deficiency with riboflavin
207. Effect of various agents on adenosine triphosphate synthesis in mitochondrial complex I deficiency
208. Successful treatment of pure myopathy, associated with complex I deficiency, with riboflavin and carnitine
209. A mitochondrial myopathy in an infant with lactic acidosis
210. Riboflavin-responsive complex I deficiency
211. Mitochondrial myopathy with tRNA(Leu(UUR)) mutation and complex I deficiency responsive to riboflavin
212. 31P magnetic resonance spectroscopy during treatment with nicotinamide and riboflavin
213. A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
214. The metabolism of riboflavin in female patients with liver cirrhosis
215. Pharmacokinetics of orally and intravenously administered riboflavin in healthy humans
216. Structure of mitochondrial aldehyde dehydrogenase: The genetic component of ethanol aversion
217. Effects of changing glutamate 487 to lysine in rat and human liver mitochondrial aldehyde dehydrogenase. A model to study human (Oriental type) class 2 aldehyde dehydrogenase
218. Aldehyde dehydrogenase 2 and glutathione S-transferase M 1 polymorphisms in relation to the risk for oral cancer in Japanese drinkers
219. Alcohol and aldehyde dehydrogenase gene polymorphisms and oropharyngolaryngeal, esophageal and stomach cancers in Japanese alcoholics
220. Deficiency in mitochondrial aldehyde dehydrogenase increases the risk for late-onset Alzheimer's disease in the Japanese population
221. The role of alcohol dehydrogenase 2 and aldehyde dehydrogenase 2 genotypes in alcoholinduced vasospastic angina
222. Genetic and environmental interaction in Japanese type 2 diabetics
223. Inactive aldehyde dehydrogenase 2 worsens glycemic control in patients with type 2 diabetes mellitus who drink low to moderate amounts of alcohol
224. Acetaldehyde adducts with hemoglobin
225. Alcohol and aldehyde dehydrogenase polymorphisms in Japanese patients with alcohol-induced chronic pancreatitis
226. Heterotetramers of human liver mitochondrial (class 2) aldehyde dehydrogenase expressed in Escherichia coli. A model to study the heterotetramers expected to be found in Oriental people
227. Effect of nicotinic acid supplementation in vivo on oxygen radical-induced genetic damage in human lymphocytes
228. Increase of blood NAD+ and attenuation of lactacidemia during nicotinamide treatment of a patient with the MELAS syndrome
229. Role of macronutrients, vitamins and minerals in the aetiology of squamous-cell carcinoma of the oesophagus
230. Enhanced glutathione levels and oxidoresistance mediated by increased glucose-6-phosphate dehydrogenase expression
231. Molecular basis of erythroenzymopathies associated with hereditary hemolytic anemia: Tabulation of mutant enzymes
232. Human mutations in glucose 6-phosphate dehydrogenase reflect evolutionary history
233. The molecular basis of glucose-6-phosphate dehydrogenase deficiency
234. Ascorbate is depleted by smoking and repleted by moderate supplementation: A study in male smokers and nonsmokers with matched dietary antioxidant intakes
235. Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia
236. A new glucose-6-phosphate dehydrogenase variant, G6PD Orissa (44 Ala→Gly), is the major polymorphic variant in tribal populations in India
237. Molecular basis and enzymatic properties of glucose 6-phosphate dehydrogenase volendam, leading to chronic nonspherocytic anemia, granulocyte dysfunction, and increased susceptibility to infections
238. + of human glucose-6-phosphate dehydrogenase by sequence analysis of mutants
239. DNA sequence abnormalities of human glucose-6-phosphate dehydrogenase variants
240. Human glucose-6-phosphate dehydrogenase: The crystal structure reveals a structural NADP(+) molecule and provides insights into enzyme deficiency
241. A series of mutations in the dihydropteridine reductase gene resulting in either abnormal RNA splicing or DHPR protein defects. Mutations in brief no. 244. Online
242. NADH stimulates endogenous dopamine biosynthesis by enhancing the recycling of tetrahydrobiopterin in rat phaeochromocytoma cells
243. Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
244. Nutrient intake of treated infants with phenylketonuria
245. The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy
246. 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
247. Structure of L-3-hydroxyacyl-coenzyme A dehydrogenase: Preliminary chain tracing at 2.8-Å resolution
248. Use of niacin, statins, and resins in patients with combined hyperlipidemia
249. Treatment of hyperlipidemia with combined niacin-statin regimens
250. Effect of niacin on atherosclerotic cardiovascular disease
251. Niacin revisited. A randomized, controlled trial of wax-matrix sustained-release niacin in hypercholesterolemia
252. Role of nicotinic acid and its derivatives in disorders of nervous system function
253. Megavitamin B-3 therapy for schizophrenia
254. On the orthomolecular environment of the mind: Orthomolecular theory
255. Comment
256. Therapeutic effects of oral NADH on the symptoms of patients with chronic fatigue syndrome
257. High dose nicotinamide in the treatment of necrobiosis lipoidica
258. Oral niacin prevents photocarcinogenesis and photoimmunosuppression in mice
259. + and poly(ADP-ribose) levels but do not affect diethylnitrosamine-induced altered hepatic foci in Fischer-344 rats
260. GI absorption of niacin in humans
261. Deficiency of biotinyl-AMP synthetase activity in fibroblasts of patients with holocarboxylase synthetase deficiency
262. Chapter 103. Disorders of biotin metabolism
263. Multiple biotin-dependent carboxylase deficiencies associated with defects in T-cell and B-cell immunity
264. Prenatal treatment of biotin responsive multiple carboxylase deficiency
265. Enzymatic diagnosis of holocarboxylase synthetase deficiency using apo-carboxyl carrier protein as a substrate
266. Characterization of mutant holocarboxylase synthetase (HCS): A Km for biotin was not elevated in a patient with HCS deficiency
267. Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency
268. Relationship between kinetic properties of mutant enzyme and biochemical and clinical responsiveness to biotin in holocarboxylase synthetase deficiency
269. Prenatal diagnosis of holocarboxylase synthetase deficiency by assay of the enzyme in chorionic villus material followed by prenatal treatment
270. Prenatal diagnosis and treatment of holocarboxylase synthetase deficiency
271. Five patients with a biotin-responsive defect in holocarboxylase formation: Evaluation of responsiveness to biotin therapy in vivo and comparative biochemical studies in vitro
272. Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency
273. Bioavailability of biotin given orally to humans in pharmacologic doses
274. Heterogeneity of holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiency
275. In vivo biotin supplementation at a pharmacologic dose decreases proliferation rates of human peripheral blood mononuclear cells and cytokine release
276. Benign methylmalonic aciduria
277. Inherited deficiencies of human methylmalonyl CoA mutase activity: Reduced affinity of mutant apoenzyme for adenosylcobalamin
278. Inherited methylmalonyl CoA mutase apoenzyme deficiency in human fibroblasts: Evidence for allelic heterogeneity, genetic compounds, and codominant expression
279. A new variant of methylmalonic acidemia-defective coenzyme-apoenzyme binding in cultured fibroblasts
280. Molecular basis for dysfunction of some mutant forms of methylmalonyl-CoA mutase: Deductions from the structure of methionine synthase
281. Clustering of mutations in methylmalonyl CoA mutase associated with mut- methylmalonic acidemia
282. Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut-methylmalonic aciduria
283. Molecular basis for methionine synthase reductase deficiency in patients belonging to the cblE complementation group of disorders in folate/cobalamin metabolism
284. Chapter 102. Inherited disorders of cobalamin transport and metabolism
285. 12 therapy of a fetus with methylcobalamin deficiency (cobalamin E disease)
286. Defects in human methionine synthase in cblG patients
287. Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders
288. Influence of a methionine synthase (D919G) polymorphism on plasma homocysteine and folate levels and relation to risk of myocardial infarction
289. Methionine synthase D919G polymorphism is a significant but modest determinant of circulating homocysteine concentrations
290. Functional methionine synthase deficiency due to cblG disorder: A report of two patients and a review
291. Heterogeneity in cblG differential retention of cobalamin on methionine synthase
292. Folate-responsive homocystinuria and megaloblastic anaemia in a female patient with functional methionine synthase deficiency cblE disease
293. Cobalamin E (cblE) disease: A severe neurological disorder with megaloblastic anaemia, homocystinuria and low serum methionine
294. Crystal structures of recombinant human dihydrofolate reductase complexed with folate and 5-deazafolate
295. Folate-responsive homocystinuria and "schizophrenia." A defect in methylation due to deficient 5,10-methylenetetrahydrofolate reductase activity
296. Folate-responsive homocystinuria and "schizophrenia"
297. Folic acid responsive rages, seizures and homocystinuria
298. Plasma homocysteine concentrations are positively associated with hostility and anger
299. Methylenetetrahydrofolate reductase variant and schizophrenia/depression
300. Association between the methylenetetrahydrofolate reductase 677C→T missense mutation and schizophrenia
301. Homocysteinemia is a common feature of schizophrenia
302. Homozygous thermolabile methylenetetrahydrofolate reductase in schizophrenia-like psychosis
303. Schizophrenia and impaired homocysteine metabolism: A possible association
304. C677T polymorphism in methylenetetrahydrofolate reductase gene and psychoses
305. Plasma homocysteine and the methylenetetrahydrofolate reductase C677T gene variant: Lack of association with schizophrenia
306. Folate, homocysteine and neural tube defects: An overview
307. Megaloblastic anemia and mental retardation associated with hyperfolic-acidemia: Probably due to N5 methyltetrahydrofolate transferase deficiency
308. 5-formyl tetrahydrofolic acid administration
309. Congenital errors of folate metabolism
310. Congenital defects in folate utilization
311. Inborn errors of folate metabolism (second of two parts)
312. Metabolic studies of a family with massive formiminoglutamic aciduria
313. Inborn errors of folate metabolism
314. Hereditary dyserythropoiesis with abnormal membrane folate transport
315. Folinic acid-responsive neonatal seizures
316. Glutamate carboxypeptidase II: A polymorphism associated with lower levels of serum folate and hyperhomocysteinemia
317. Effects of folate supplementation on two provisional molecular markers of colon cancer: A prospective, randomized trial
318. Polymorphisms of key enzymes in homocysteine metabolism affect diet responsiveness of plasma homocysteine in healthy women
319. Folate sufficient subjects do not accumulate additional folates during supplementation
320. Hereditary deficiency of vitamin K-dependent coagulation factors with skeletal abnormalities
321. Structure and mechanism of action of the vitamin K-dependent gamma-glutamyl carboxylase: Recent advances from mutagenesis studies
322. Expression and characterization of the naturally occurring mutation L394R in human gamma-glutamyl carboxylase
323. Novel mutation in the gamma-glutamyl carboxylase gene resulting in congenital combined deficiency of all vitamin K-dependent blood coagulation factors
324. Congenital deficiency of blood clotting factors II, VII, IX, and X
325. A mutation in the propeptide of factor IX leads to warfarin sensitivity by a novel mechanism
326. Vitamin K absorption capacity and its association with vitamin K deficiency
327. 3
328. Hereditary vitamin D resistant rickets caused by a novel mutation in the vitamin D receptor that results in decreased affinity for hormone and cellular hyporesponsiveness
329. 3: Point mutations confer reduced transactivation in response to ligand and impaired interaction with the retinoid X receptor heterodimeric partner
330. Severely deficient binding of 1,25-dihydroxyvitamin D to its receptors in a patient responsive to high doses of this hormone
331. Variants of the VDR gene and risk of colon cancer (United States)
332. Vitamin D and prostate cancer
333. Vitamin D resistance
334. Genetics of vitamin D la-hydroxylase deficiency in 17 families
335. 3
336. Ataxia with vitamin E deficiency: Biochemical effects of malcompliance with vitamin E therapy
337. Effect of vitamin E supplementation in patients with ataxia with vitamin E deficiency
338. Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates
339. Treatment of mild phenylketonuria (PKU) by tetrahydrobiopterin (BH4)
340. The V388M mutation results in a kinetic variant form of phenylalanine hydroxylase
341. A structural hypothesis for BH4 responsiveness in patients with mild forms of hyperphenylalaninaemia and phenylketonuria
342. Tetrahydrobiopterin-responsive hyperphenylalaninemia (HPA) in Dutch neonates
343. Brain creatine depletion: Guanidinoacetate methyltransferase deficiency (improving with creatine supplementation)
344. Dilated cardiomyopathy due to type II X-linked 3-methylglutaconic aciduria: Successful treatment with pantothenic acid
345. Maternal 3-methylglutaconic aciduria associated with abnormalities in offspring
346. A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome
347. Lipoamide dehydrogenase deficiency with primary lactic acidosis: Favorable response to treatment with oral lipoic acid
348. Kinetic evidence for a structural abnormality of lipoamide dehydrogenase in two patients with Friedreich ataxia
349. Deficiency of dihydrolipoamide dehydrogenase due to two mutant alleles (E340K and G101del). Analysis of a family and prenatal testing
350. Neonatal pyruvate dehydrogenase deficiency with lipoate responsive lactic acidaemia and hyperammonaemia
351. Mitochondrial carnitine-acylcarnitine translocase deficiency presenting as sudden neonatal death
352. Carnitine uptake defect: Frameshift mutations in the human plasmalemmal carnitine transporter gene
353. Clinical and hormonal outcome after two years of triiodothyroacetic acid treatment in a child with thyroid hormone resistance
354. Triiodothyroacetic acid has unique potential for therapy of resistance to thyroid hormone
355. Hormone-nuclear receptor interactions in health and disease. Thyroid hormone resistance
356. A novel point mutation of thyroid hormone receptor beta gene in a family with resistance to thyroid hormone
357. Decreased plasma alanine and isoleucine in Huntington's disease
358. Mutations in copper-zinc superoxide dismutase that cause amyotrophic lateral sclerosis alter the zinc binding site and the redox behavior of the protein
359. Loss of in vitro metal ion binding specificity in mutant copper-zinc superoxide dismutases associated with familial amyotrophic lateral sclerosis
360. Decreased zinc affinity of amyotrophic lateral sclerosis-associated superoxide dismutase mutants leads to enhanced catalysis of tyrosine nitration by peroxynitrite
361. Induction of nitric oxide-dependent apoptosis in motor neurons by zinc-deficient superoxide dismutase
362. Constitutive and regulated alpha-secretase cleavage of Alzheimer's amyloid precursor protein by a disintegrin metalloprotease
363. Monovalent cation activation in Escherichia coli inosine 5′-monophosphate dehydrogenase