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Moving forward in determining the causes of mutations: the features of plants that make them suitable for assessing the impact of environmental factors and cell age.

Currently, the types of factors that impact the mutation rate is a controversial issue. The marked attention towards identifying the factors that impact the genomic mutation rate is justified because mutations are the source of genetic variation underlying evolution and because many mutations have deleterious effects and can cause diseases. Although data showing correlations between germ cell division number and mutation rates (from epidemiological studies and molecular evolutionary rate analyses) have suggested that most mutations in animals are replication errors, this notion is highly debated and inconsistencies in the correlations suggest that other, replication-independent factors, could play an important role. Likely candidates include environmental parameters and cell age, but these issues have proved to be difficult to study using animals and in vitro systems, and consequently, very few or no data currently exist. The specific features of plants that make them powerful model systems for revealing the influence of the environment (natural environmental factors) and cell age on the spontaneous genomic mutation rate are discussed here. Overall, the evidence suggests that plants could be key biological systems for advancing our knowledge about how and why heritable mutations arise.

Cellular Senescence↗

Multiple source analysis of interictal spikes: goals, requirements, and clinical value.

When evaluating interictal spikes using dipole source analysis it is important to account for multiple sources and the overlapping background EEG. Analyses of spike peaks may be modeling only propagated sources. Careful filtering of averaged spike data and multiple source analysis can provide useful information about the onset of epileptiform activity. A forward high-pass filter can help to enhance the initial spike activity during onset over the propagated activity. These points are illustrated with examples of a temporal, a parietal, and a frontal averaged spike. Multiple source analysis was applied using a genetic algorithm and a sequential strategy, in one case including a model of background alpha activity. Multiple source analysis could model sources describing the onset activity that were distinct in location and orientation from the propagated activity. In all cases, the prominent peak on the scalp was dominated by the contribution of propagated sources. Clinical interpretation benefits from an approach that combines the temporal evolution of EEG scalp topography and multiple source activities with the information from localization and orientation of equivalent dipole sources to identify the cortical generators underlying the earliest phase of interictal spikes.

Action Potentials↗

Recent advances in newborn screening for neurometabolic disorders.

PURPOSE OF REVIEW: Newborn screening for neurometabolic disorders offers a unique and promising opportunity to practice preventive medicine in children with diverse inborn errors of metabolism. The benefits of the early identification and presymptomatic treatment of these disorders are now recognized. RECENT FINDINGS: The rapid pace of developments in the field of expanded newborn screening has been made possible by technological advances in the ability to detect multiple compounds diagnostic of diverse inborn errors of metabolism in neonatal dried blood specimens. Launched by the success of newborn screening for phenylketonuria, experts in this area are optimistic that further public health benefits will follow the same pathway. This review highlights the population model and public health issues inherent in advances in newborn screening for selected neurometabolic disorders. Current and future diagnostic and therapeutic, as well as social and ethical, dilemmas are discussed. SUMMARY: Newborn screening represents one of the major child health advances of this past century. As developments in the field of expanded newborn screening for neurometabolic disease progress forward, the long-term success of this important project will pose future challenges and opportunities.

Blood Chemical Analysis↗

NTP Toxicology and Carcinogenesis Studies of Penicillin VK (CAS No. 132-98-9) in F344/N Rats and B6C3F1 Mice (Gavage Studies).

Penicillin VK, a widely used antibiotic for treatment of gram-positive coccal infections, was nominated for study by the National Cancer Institute because rodent carcinogenicity studies for this drug had not been performed. The chemical (94% or 98% pure, USP grade) was administered orally (by gavage in corn oil) because oral administration is the primary route used to treat infections in humans. Fourteen-day, 13-week, and 2-year studies were conducted in F344/N rats and B6C3F1 mice. Additional studies were performed to evaluate the potential for genetic damage in bacteria and mammalian cells. Fourteen-Day and Thirteen-Week Studies: In the 14-day studies, penicillin VK was administered at doses of 150-2,400 mg/kg. No compound-related deaths or dose-related histopathologic lesions were seen in rats or mice. Final mean body weights of dosed male rats were 5%-17% lower than that of controls; weights of dosed and control female rats were comparable. Final mean body weights of dosed mice were 5%-9% lower than those of controls. Diarrhea was observed in all dosed groups of rats and mice. In the 13-week studies, male and female rats received doses of 180-3,000 mg/kg and male and female mice received doses of 250-3,000 mg/kg. No compound-related deaths were seen in rats or mice. Final mean body weights of rats that received 3,000 mg/kg were 11% lower than those of the vehicle controls for males and 6% lower for females. For mice, mean body weights were comparable. Diarrhea occurred in male rats at doses of 750 mg/kg and above and in female rats at doses of 1,500 and 3,000 mg/kg. Mucous cell metaplasia of the glandular stomach was observed in male and female rats receiving 1,500 and 3,000 mg/kg. Lesions of the glandular stomach (inflammation, mucous cell metaplasia, and eosinophilic cytoplasmic change) and the forestomach (papillary hyperplasia and hyperkeratosis) were seen in all groups of dosed mice. The severity of lesions at 1,000 mg/kg or below was considered minimal. Based on these results, doses selected for rats and mice in the 2-year studies were 0, 500, or 1,000 mg/kg. Body Weight and Survival in the Two-Year Studies: Mean body weights of dosed and vehicle control male and female rats and male mice were comparable. Mean body weights of dosed female mice were 4%-16% lower than those of the vehicle controls from week 28 to the end of the study. Diarrhea was observed for dosed male and female rats and for dosed male mice. Survival of low and high dose male rats and high dose female rats was reduced (male rats: vehicle control, 34/50; low dose, 19/50; high dose, 16/50;female rats: 29/50; 26/50; 16/50). Survival of male and female mice was comparable to that of the vehicle controls (male mice: 24/50; 36/50; 26/50; female mice: 36/50; 32/50; 32/50). Nonneoplastic and Neoplastic Effects in the Two-Year Studies: Nonneoplastic lesions occurred at low incidences in the nasal mucosa, lung, and forestomach of dosed male rats and in the nasal mucosa and lung of dosed female rats. Congestion and aspiration pneumonia occurring in dosed rats dying before week 104 was the principal cause of death in these animals. Nonneoplastic lesions of the gastric fundal gland (eosinophilic cytoplasmic change and dilatation) and glandular stomach (cyst, chronic focal inflammation, hyperplasia, fibrosis, and squamous metaplasia) were seen in dosed male and female mice, and lesions of the gallbladder (eosinophilic cytoplasmic change) were seen in male mice. Slight increases in the incidences of adenomas of the pituitary gland in high dose male rats and of fibroadenomas or adenomas (combined) of the mammary gland in low dose female rats were observed. These were not considered to be compound-related lesions. The incidence of hepatocellular adenomas was decreased in high dose male mice (14/50; 15/49; 4/49). No compound-related neoplasms were seen in female mice. Genetic Toxicology: Penicillin VK was not mutagenic in Salmonella typhimurium strains TA98, TA100, TA1535, or TA1537 with or without exogenous metabolic activation. The chemical was mutagenic onl exogenous metabolic activation. The chemical was mutagenic only with activation in the mouse lymphoma L5178Y/TK± forward mutation assay. Incubation of Chinese hamster ovary cells with penicillin VK resulted in increased frequencies of sister chromatid exchanges and chromosomal aberrations in the absence of metabolic activation under the conditions of delayed harvest to compensate for chemical-induced cell cycle delay, no effects from penicillin VK exposure were observed in these cells in the presence of S9. Audit: The data, documents, and pathology materials from the 2-year studies of penicillin VK were audited. The audit findings show that the conduct of the studies is documented and support the data and results given in this Technical Report. Conclusions: Under the conditions of these 2-year gavage studies, there was no evidence of carcinogenic activity of penicillin VK for F344/N rats or for B6C3F1 mice administered 500 or 1,000 mg/kg penicillin VK in corn oil gavage, 5 days per week for 2 years. Nonneoplastic lesions were seen in the glandular stomach of dosed mice. Decreased survival of low and high dose male rats and of high dose female rats reduced the sensitivity of the studies for determining the presence or absence of a carcinogenic response in this species. Synonyms: 4-thia-1-azabicyclo(3.2.0)heptane-2-carboxylic acid, 3,3-dimethyl-7-oxo-6-(2-phenoxy-acetamide)-, monopotassium salt; penicillin V potassium; penicillin V potassium salt; D-a-phenoxymethylpenicillinate K salt; phenoxymethylpenicillin potassium; PVK Trade Names: Antibiocin; Apsin VK; Aracil; Arcasin; Aspin VK; Beromycin; Beromycin 400; Betapen VK; Calciopen K; Cliacil; Compocillin VK; Distakaps V-K; Distaquaine V-K; Dowpen V-K; DQV-K; Fenoxypen; Icipen; Isocillin; Ispenoral; Ledercillin VK; Megacillin oral; Oracil-VK; Orapen; Ospeneff; Pedipen; Penagen; Pencompren; Pen-Vee K; Pen-V-K powder; Penvikal; Pfizerpen VK; Qidpen VK; Robicillin VK; Rocillin-VK; Roscopenin; SK-Penicillin VK; Stabilin VK Syrup 125; Stabilin VK Syrup 62.5; Sumapen VK; Suspen; Uticillin VK; V-Cil-K; V-Cillin K; Veetids; Vepen

Journal Article↗

[Genetics and hyperphenylalaninemias in 1992].

Hyperphenylalaninemias result from different enzymatic impairment, the most common and best studied which is phenylalanine hydroxylase (PAH) deficiency. The PAH gene has been cloned, sequenced and mapped: it is a single copy. Twenty-one mutations have now been characterized, but they constitute less than half of the haploid genotypes in French patients. A study of RFLP haplotypes is informative in 90% of families, but no linkage disequilibrium exists between illness and one particular haplotype. Prediction of phenotype from genotype seems possible, and could constitute a better therapeutic approach, perhaps including gene therapy in the most serious cases. The recently produced murine model should permit further progress to be made. Some hypotheses could be put forward about the origin and high frequency of this disease, that principally affects Caucasians: there is a consensus of opinion--though there is no definitive proof--that some selective advantage exists in individuals heterozygous for a PKU allele.

Adolescent↗

[Rpo pathway as a possible recombination mechanism of the interaction between DNA of transducing phages and the Escherichia coli genome].

The conditions affecting recombination of DNAs of transducing lambdoid rifd phages with the chromosome of Escherichia coli K-12 recA in the region of homology were studied. In support to the previously obtained data, the Int system was shown to take no part in the process. The homologous character of recombination interactions and their dependence on efficiency of transcription were demonstrated. It is therefore suggested that recombination takes the Rpo pathway. Similar peculiarities were revealed in the processes of interaction between DNAs of rifd phages as well as of lambdoid phages carrying trp genes and the host genome. A hypothesis is put forward that the Rpo pathway operates, depending on the density of DNA supercoiling.

Bacteriophage lambda↗

[Multiple mutants of Saccharomyces cerevisiae. III. The identification of the mutational changes that occur].

Localization and molecular nature of mutations in multiple mutants of yeast Sacchromyces cerevisiae were studied. It was found that simultaneous changes in several genes located in more than five linkage groups took place during the arise of multiple mutants after a single UV-irradiation (at a dose of 300 erg/nm2). It was shown that reversions of original nonsense-mutations were due to mutational changes in the same genes and the arise of the forward nonsense-mutations in the other genes took place as a result of base changes in DNA.

Crosses, Genetic↗

Digging out roots: pattern formation, cell division, and morphogenesis in plants.

The analysis of plant development by genetic, molecular, and surgical approaches has accumulated a large body of data, and yet it remains a challenge to uncover the basic mechanisms that are operating. Early steps of development, when the zygote and its daughter cells organize the embryonic plant, are poorly understood despite considerable efforts toward the identification of relevant genes. Reported cases of genetic redundancy suggest that the difficulty in uncovering patterning genes may reflect overlapping gene activities. Our current knowledge on plant embryo development still leaves open whether mechanisms for axis formation and subsequent pattern formation are fundamentally different in animals and plants. Axis formation may follow the general principle of establishing a peripheral asymmetric cue and mobilizing the cytoskeleton toward this cue--in the case of plants possibly located in the cell wall--but the molecules involved may be entirely different. Embryonic pattern formation involves the establishment of different domains, but although there are candidates, it is not clear whether genes that define these domains are identified yet. Pattern formation continues postembryonically in the meristem, and the flexibility of this process may be explained by a feed-forward system of patterning cues originating from more mature cells. Control of cell division and differentiation, which is important in the meristems--regions of continuous development--has been studied intensively and appears to involve short-range signaling and transmembrane receptor kinase activation. Finally, although high importance of control of cell division rates and planes for plant morphogenesis have been often inferred, recent genetic studies as well as comparative morphological data point to a less decisive role of cell division and to global controls of as yet unknown nature.

Body Patterning↗

[Advances in the molecular treatment of depression].

AIMS: The objective of this study is to survey present and future antidepressant drug therapy based on the progress made in the field of biotechnology. DEVELOPMENT: The simplistic and mistaken view that one single system of neurotransmission is altered in depression and that there is, therefore, just one single treatment has changed. Molecular biology and Genetics have enabled us to determine other possible chemical alterations in the brain, beyond the sole participation of the monoaminergic modulation systems, which is the classical hypothesis. In this paper we describe the evidence for the relations between depression and the therapeutic effect the classical antidepressants have on: 1. The peptidergic system of the corticotropin-releasing hormone, cortisol and the functional state of its receptors; 2. Intracellular signalling systems such as cAMP on transcription factors like CREB and neurotrophins; 3. The immune system and cytosines; 4. Glutamate transmission; and 5. The neuropeptidergic system of substance P, neuroactive steroids and the neuroglia. This has allowed other biochemical hypotheses about depression and the possibility of new treatments to be put forward. CONCLUSIONS: We are still not certain about the exact cause or the processes that determine mental illnesses such as depression or how improvements are achieved with the antidepressants we currently have available. Nevertheless, biotechnology is expected to be a great help in advancing towards a better understanding of the interrelations between the nervous, immune and endocrine systems, with their intracellular cascades and final outcomes in genetic expression and protein function, in depression. This will enable more efficient, more selective and faster-acting drugs to be developed and, in the future and with the help of psychogenomics, even make it possible to produce tailor-made medication for each patient.

Antidepressive Agents↗

The capacity of Drosophila for detecting relevant genetic damage.

For the detection and study of mutagenic agents, Drosophila offers many advantages. It is a higher organism with a short generation time that is cheap and easy to breed in large numbers. The simple genetic testing methods provide unequivocal answers about the whole spectrum of relevant genetic damage. A comparison of the detection capacity of assays sampling different kinds of genetic damage revealed that various substances are highly effective in inducing mutations, but do not produce chromosome breakage effects at all, or only at much higher concentrations than those required for mutation induction. Of the different assay systems available, the classical sex-linked recessive lethal test thus deserves priority, in view of its superior capacity to detect mutagens. Of practical importance is also its high sensitivity, because a large number of loci in one-fifth of the genome is tested for newly induced forward mutations, including small deletions. Drosophila is capable of carrying out the same metabolic activation reactions as the mammalian liver. An additional advantage, in this respect, is the capacity of Drosophila for detecting short-lived activation products, because intracellular activation occurs within the spermatids ans spermatocytes. These properties make the test for recessive sex-linked lethals a useful tool for verifying results obtained in the pre-screening of potential mutagens with fast microbial assay systems. In studies on non-disjunction, detailed genetic analysis of the induced changes is possible, and these may shed light on the mechanisms involved. A new adaptation of the bithorax transvection method by Mendelson permits the recovery of high yields of chromosome aberrations in a fast one-generation test.

Animals↗

Selective sweeps in the presence of interference among partially linked loci.

Recurrent directional selection on a partially recombining chromosome may cause a substantial reduction of standing genetic variation in natural populations. Previous studies of this effect, commonly called selective sweeps, assumed that at most one beneficial allele is on the way to fixation at a given time. However, for a high rate of selected substitutions and a low recombination rate, this assumption can easily be violated. We investigated this problem using full-forward simulations and analytical approximations. We found that interference between linked beneficial alleles causes a reduction of their fixation probabilities. The hitchhiking effect on linked neutral variation for a given substitution also slightly decreases due to interference. As a result, the strength of recurrent selective sweeps is weakened. However, this effect is significant only in chromosomal regions of relatively low recombination rates where the level of variation is greatly reduced. Therefore, previous results on recurrent selective sweeps although derived for a restricted parameter range are still valid. Analytical approximations are obtained for the case of complete linkage for which interference between competing beneficial alleles is maximal.

Computer Simulation↗

[Review of current etiopathogenic data of Buerger disease].

Although 75 years have passed since Buerger's disease was described as a separate nosological, its etiology and pathogenesis are not sufficiently elucidated. According to many authors the disease origin is significantly connected to genetic and environmental factors. Exposure of some patients with special genotype, mainly HLA-A9 and HLA-B5, to environmental factors, mainly nicotine, may be the base of etiology and pathogenesis of Buerger's disease. Discovery of antielastin, anticollagen I and III antibodies, antinicotine and antivascular antigen antibodies in blood of patients, allowed to put forward a theory of immunological character of TO. In Buerger's disease, defined in recent years as an inactive collagenosis, immunological complexes, cell toxins developing during phagocytosis, found in smokers, constitute the main agents responsible for vascular wall damage. Disturbance of prostacyclin I2/thromboxane A2 balance and accelerated platelet aggregation cause spasm of arterioles and in effect lead to higher procoagulant readiness. Some adhesive molecules, for example P and L selectins, play an important role in vascular endothelium damage. Prostaglandin treatment induces an improvement of vascular wall (endothelium) status, and simultaneously improvement of tissue perfusion, expressed by a decrease of selectin and vWF concentrations and of the number of desquamated endothelial cells.

Diagnosis, Differential↗

[Memory: a view of the history of central nervous system].

In order to stress the role and importance of memory in human nervous system, this first paper intends to show how it appeared during evolution with the cortex of brain hemispheres and how its significant growth is the cause (and not consequence) of hominization. This growth seems related to a discontinuation of the fetal period during gestation. It leads to birth before the brain is mature, substituting a genetic maturation by an epigenetic maturation through learning. This discontinuation of pregnancy is related to a purely mechanical and obstetrical cause, depending on maternal pelvis. Evolution from quadrupedia to bipedia transformed the pelvis, obliging the newborn to make his way not downward but forward, through a narrow inextensible pass. This history of memory, showing its role in human species evolution, may lead to a reflection on its role in the evolution of all the species possessing a cortex. Above all, it will allow to understand how and in which way human brain is a sort of machine totally associated with memory.

Animals↗

G2 checkpoint in uterine cervical cancer with HPV 16 E6 according to p53 polymorphism and its screening value.

INTRODUCTION: We aimed to verify not only whether homozygous Arg at codon 72 of the p53 apoptotic domain is a possible risk factor for cervical human papillomavirus (HPV)-related cancer, but whether degraded p53 may have an effect on a G2 checkpoint of the cell cycle. The implication of the codon 72 polymorphism of p53 in cervical tumor remains controversial. Furthermore, G2 checkpoint alteration and its relationship with p53, the codon 72 allotype, according to HPV infection in cervical tumors, has not been studied. MATERIALS AND METHODS: The purified genomic DNA from 252 archival cervical tissues [102 cervical intraepithelial neoplasias (CINs) and 46 squamous cell carcinomas of the uterine cervix (SCCs), and 104 normal] were amplified by nested polymerase chain reaction (PCR) for HPV-16/HPV-18. In addition, all of them were amplified by PCR for exon 4 of p53, where the codon 72 resides. The amplified PCR products were then sequenced using the forward primer. A polymorphism analysis was done by SnaPshot ddNTP primer extension and following direct sequencing. The reaction mixture was treated with 0.25 unit of shrimp alkaline phosphatase (Amersham) at 37 degrees C for 1 h, subsequently performed in an ABI Prism 310 Genetic Analyzer (Perkin-Elmer). The archival slides were incubated overnight at 4 degrees C using mouse anti-human recombinant cyclin B1 polyclonal antibody or mouse anti-Xenopus p34(cdc2) monoclonal antibody for immunohistochemistry (Santa Cruz Biotech, Santa Cruz, CA). RESULTS: The frequency of Arg allelic homozygosity was high in both cases (89.1%) and the control (80.8%) group (P = 0.4703). All groups except CIN were in Hardy-Weinberg equilibrium. There was no significant difference in the frequency of p53 polymorphism between the HPV-positive (Arg, 88.0%) and the negative (Arg, 88.8%) groups, or between CIN (Arg, 88.2%) and SCC (Arg, 89.1%). Both immunoreactivities to cyclin B and p34(cdc2) were strongly correlated with the HPV infection (P = 0.0001) and the histological types (P = 0.0001) between CIN and SCC, being strongly correlated with each other (alpha:0.62954, P = 0.0001). CONCLUSION: The particular type of the p53 polymorphism does not bear relation to the progression of cervical cancer, HPV infection, or to the p53 codon 72 polymorphism. However, the G2 checkpoint appears to be altered in the case of a HPV-positive SCC.

Base Sequence↗

The molecular basis of kidney stones.

PURPOSE OF REVIEW: To emphasize an exploration of mechanisms of kidney stone disease based on a molecular understanding of excess urinary excretions of calcium, oxalate, cystine, and uric acid. RECENT FINDINGS: Hypercalciuria is discussed relative to mutations in the renal chloride genes CLCN5 and CLCNKB, WNK kinases, ATPB61, and NPT2. Hyperoxaluria is discussed relative to mutations in AGXT and GRHPR. Cystinuria is discussed relative to mutations in SLC3A1 and SLC7A9. Hyperuricosuria is discussed with novel gene findings, and hyperxanthinuria with new findings in XDH. SUMMARY: An enhanced understanding of the diagnosis, course, and prognosis for genetic causes of kidney stone diseases has been made available to the clinician caring for patients with kidney stones and to the scientist interested in their cause, as a result of molecular breakthroughs in the kidney handling of normal urinary constituents. We look forward to a new era of the therapeutics of kidney stones based on such advances.

Chloride Channels↗

Would Aristotle have played Russian roulette?

This paper continues the debate between myself and Peter Singer et al started in the Journal of Medical Ethics volume 21, no 3 about the ethical respectability of the use of QALYs in health care allocation. It discusses the question of what, in the way of health care provision, would be chosen by rational egoists behind a Rawlsian "veil of ignorance", and takes forward the vexed question of what is to count as "doing good" and hence as "doing the most good" in health care. Most importantly, this paper argues that it would be unfair to discriminate against people because they have been disadvantaged by their genetic condition. It notes that McKie et al in their reply to my first contribution to this debate continue to fail to distinguish between chance and probability and it is argued that this failure causes them to miss the whole point of the argument.

Ethical Theory↗

Lessons from European population genetic databases: comparing the law in Estonia, Iceland, Sweden and the United Kingdom.

The advent of large-scale, population genetic databases (PGDs) in several countries around the world marks a significant development in human DNA banking and genetic research. The European countries that have led the way in the development of PGDs are Iceland, Sweden, Estonia and the U.K. In legal terms, the emergence of PGDs has been far from straightforward as such projects pose a range of difficult and complex issues for the law to address. This article canvasses the current law in Iceland, Estonia, Sweden and the U.K. on four fundamental issues of principle pertaining to PGDs, in order to illustrate the difficulties that have emerged around PGDs, highlight key areas of legal concern, and shed light on possible ways forward. It compares and contrasts the differing legal positions and lawmakers' responses to date in these four European countries that have established PGDs or are seeking to do so. The four fundamental issues examined are: (1) consent, especially for secondary research purposes; (2) ownership of biological samples, data and databases; (3) the rights of certain third parties to gain access to, and to use, PGD biological samples and data; and (4) benefit sharing, including the provision of feedback and genetic counselling to participants. This analysis may offer some guidance for policymakers in other jurisdictions where PGDs have been proposed or are being established.

Databases, Genetic↗

Genetic modifiers of the phenotype of mice deficient in mitochondrial superoxide dismutase.

Sod2-/- mice, which are deficient in the mitochondrial form of superoxide dismutase (MnSOD), have a short survival time that is strongly affected by genetic background. This suggests the existence of genetic modifiers that are capable of modulating the degree of mitochondrial oxidative damage caused by the MnSOD deficiency, thereby altering longevity. To identify these modifier(s), we generated recombinant congenic mice with quantitative trait loci (QTL) containing the putative genetic modifiers on the short-lived C57BL/6J genetic background. MnSOD deficient C57BL/6J mice with a QTL from the distal region of chromosome 13 from DBA/2J were able to survive for as long as those generated on the long-lived DBA/2J background. Within this region, the gene encoding nicotinamide nucleotide transhydrogenase (Nnt) was found to be defective in C57BL/6J mice, and no mature NNT protein could be detected. The forward reaction of NNT, a nuclear-encoded mitochondrial inner membrane protein, couples the generation of NADPH to proton transport and provides NADPH for the regeneration of two important antioxidant compounds, glutathione and thioredoxin, in the mitochondria. This action of NNT could explain its putative protective role in MnSOD-deficient mice.

Alleles↗