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PubMed2005

DNA variation at the invertase locus invGE/GF is associated with tuber quality traits in populations of potato breeding clones.

Starch and sugar content of potato tubers are quantitative traits, which are models for the candidate gene approach for identifying the molecular basis of quantitative trait loci (QTL) in noninbred plants. Starch and sugar content are also important for the quality of processed products such as potato chips and French fries. A high content of the reducing sugars glucose and fructose results in inferior chip quality. Tuber starch content affects nutritional quality. Functional and genetic models suggest that genes encoding invertases control, among other things, tuber sugar content. The invGE/GF locus on potato chromosome IX consists of duplicated invertase genes invGE and invGF and colocalizes with cold-sweetening QTL Sug9. DNA variation at invGE/GF was analyzed in 188 tetraploid potato cultivars, which have been assessed for chip quality and tuber starch content. Two closely correlated invertase alleles, invGE-f and invGF-d, were associated with better chip quality in three breeding populations. Allele invGF-b was associated with lower tuber starch content. The potato invertase gene invGE is orthologous to the tomato invertase gene Lin5, which is causal for the fruit-sugar-yield QTL Brix9-2-5, suggesting that natural variation of sugar yield in tomato fruits and sugar content of potato tubers is controlled by functional variants of orthologous invertase genes.

Alleles↗
PubMed1992

Temperature cycling periods affect growth and tuberization in potatoes under continuous irradiation.

Plants of the potato (Solanum tuberosum L.) cultivars Denali, Norland, Haig and Kennebec were grown for 42 days under three temperature cycling periods (thermoperiods) with continuous irradiation in two repeated experiments to help determine if temperature cycling might be varied to optimize tuber development of potatoes in controlled environments. Thermoperiods of 6/6 hours, 12/12 hours and 24/24 hours were established with the same temperature change of 22/14C and same controlled vapor pressure deficit of 0.60 kPa. The thermoperiod of 24/24 hours significantly promoted tuber initiation but slowed tuber enlargement in all four cultivars, compared to the thermoperiods of 6/6 hours and 12/12 hours. Denali' produced the highest tuber and total dry weights under the 6/6 hours thermoperiod. Kennebec' produced the highest tuber dry weight under the 12/12 hours thermoperiod. Thermoperiods had no significant effect on shoot and root dry weights of any cultivars. The major effect of thermoperiods was on initiation and enlargement of tubers.

Environment, Controlled↗
PubMed1994

Lateral tuberal nucleus in man and macaca comparative morphometric investigations.

Cytoarchitectonics of the lateral tuberal nucleus--a phylogenetically new hypothalamic structure--was investigated using morphometric methods. The most characteristic feature of the human lateral tuberal nucleus is an extremely great variability of its shape and segmentation. The lateral tuberal nucleus consists mostly of several separated neuronal groups; in each brain the arrangement of these groups is different. In macaca the lateral tuberal nucleus is a single elongated neuronal structure much less variable than in man. The human LTN is approximately ten times larger than that in macaca, but the number of neurons is only about four times higher due to a lower neuronal density. The lateral tuberal nucleus both of man and macaca is a homogenous neuronal population with a very low coefficient of variability of cross-section neuronal area (30% and 24% respectively). The size of neuronal bodies in the lateral tuberal nucleus is about 42% smaller in macaca than in man. However, the size of neuronal nuclei is slightly (15%) bigger and the nucleus/cell body area ratio is about twice as high in macaca as that in man (40% and 21% respectively).

Adult↗
PubMed2002

Tsc2 null murine neuroepithelial cells are a model for human tuber giant cells, and show activation of an mTOR pathway.

Cortical tubers are developmental brain malformations in the tuberous sclerosis complex (TSC) that cause epilepsy and autism in TSC patients whose pathogenesis is uncertain. Tsc2 null murine neuroepithelial progenitor (NEP) cells display persistent growth when growth factors are withdrawn, express GFAP at high levels, and have reduced expression of a set of early neuronal lineage markers. Tsc2 null NEP cells exhibit aberrant differentiation into giant cells that express both beta III-tubulin and GFAP and that are morphologically similar to giant cells in human tubers. Tsc2 null giant cells and tuber giant cells have similar transcriptional profiles. Tsc2 null NEP cells express high levels of phosphorylated S6kinase, S6, Stat3, and 4E-BP-1, which is reversed by treatment with rapamycin, an inhibitor of mTOR. We conclude that giant cells in human tubers likely result from a complete loss of TSC2 expression and activation of an mTOR pathway during cortical development.

Adaptor Proteins, Signal Transducing↗
PubMed1997

Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene.

Tuberous sclerosis is an autosomal dominant trait characterized by the development of hamartomatous growths in many organs. Renal cysts are also a frequent manifestation. Major genes for tuberous sclerosis and autosomal dominant polycystic kidney disease, TSC2 and PKD1, respectively, lie adjacent to each other at chromosome 16p13.3, suggesting a role for PKD1 in the etiology of renal cystic disease in tuberous sclerosis. We studied 27 unrelated patients with tuberous sclerosis and renal cystic disease. Clinical histories and radiographic features were reviewed, and renal function was assessed. We sought mutations at the TSC2 and PKD1 loci, using pulsed field- and conventional-gel electrophoresis and FISH. Twenty-two patients had contiguous deletions of TSC2 and PKD1. In 17 patients with constitutional deletions, cystic disease was severe, with early renal insufficiency. One patient with deletion of TSC2 and of only the 3' UTR of PKD1 had few cysts. Four patients were somatic mosaics; the severity of their cystic disease varied considerably. Mosaicism and mild cystic disease also were demonstrated in parents of 3 of the constitutionally deleted patients. Five patients without contiguous deletions had relatively mild cystic disease, 3 of whom had gross rearrangements of TSC2 and 2 in whom no mutation was identified. Significant renal cystic disease in tuberous sclerosis usually reflects mutational involvement of the PKD1 gene, and mosaicism for large deletions of TSC2 and PKD1 is a frequent phenomenon.

Adolescent↗
PubMed1996

Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex.

Tuberous sclerosis complex (TSC) is an autosomal dominantly inherited disease with a high mutation rate. It is clinically a very variable disorder and hamartomas can occur in many different organs. TSC shows genetic heterogeneity; one gene, TSC1, is on chromosome 9q34, and the second gene, TSC2, on chromosome 16p13.3. Clinical criteria for diagnosis have been established, but diagnosis of patients with minimal expression of the disease can be very difficult. In children the phenotype is often incomplete or not fully assessable. Hence mildly affected subjects, at risk for severely affected offspring, may remain undiagnosed. The detection of (small) mutations in the tuberous sclerosis gene located on chromosome 16 (TSC2) has recently become possible and may be helpful in the diagnosis of ambiguous cases. To our knowledge, this is the first report of a point mutation in the TSC2 gene in a familial case of tuberous sclerosis. A nonsense mutation was detected in a family in which the father had only minor signs hinting at tuberous sclerosis. The son had multiple cardiac tumours and white patches, but full clinical investigation was impossible in this child. This case illustrates that mutation analysis can contribute to a diagnosis of tuberous sclerosis in families with an incomplete phenotype.

Adult↗
PubMed1993

Magnetic resonance imaging. Its role in the neuroradiologic evaluation of neurofibromatosis, tuberous sclerosis, and Sturge-Weber syndrome.

BACKGROUND: Magnetic resonance imaging (MRI) has rapidly become a major diagnostic technique, displacing computed tomography (CT) as the primary neuroimaging modality in many disorders of the central nervous system. Neuroimaging studies are valuable in the diagnosis and management of neurofibromatosis, tuberous sclerosis, and Sturge-Weber syndrome. This article reviews the technique of MRI and its role in identifying the characteristic central nervous system manifestations of these neurocutaneous syndromes. OBSERVATIONS: MRI offers superior soft-tissue contrast without the use of ionizing radiation. It provides more detailed imaging than CT of the characteristic central nervous system lesions of neurofibromatosis, tuberous sclerosis, and Sturge-Weber syndrome. In neurofibromatosis type 1, these include optic glioma, astrocytoma, and plexiform neurofibroma, and "unidentified bright objects" that are seen only with MRI. Bilateral acoustic neuromas are the hallmark of neurofibromatosis type 2. Subependymal nodules and cortical and white matter tubers are characteristic of tuberous sclerosis. Manifestations of Sturge-Weber syndrome include leptomeningeal angiomatosis, hemiatrophy, cortical calcification, and patchy parenchymal gliosis and demyelination. CONCLUSIONS: MRI, especially with gadolinium enhancement, appears to be more sensitive than CT in the detection of neurofibromatosis, tuberous sclerosis, and Sturge-Weber syndrome. MRI may be the imaging method of choice for following certain patients or screening family members.

Brain Diseases↗
PubMed1988

Magnetic resonance images of tuberous sclerosis. Further observations and clinical correlations.

The cerebral lesions in tuberous sclerosis are of three kinds: subependymal nodules, cortical tubers, and cluster of heterotopic cells in the white matter. Understanding of these hamartomas is still incomplete even with modern imaging modalities. Magnetic resonance (MR) images of ten patients with tuberous sclerosis were reviewed and compared to computed tomographic (CT) scans and to the clinical severity of the disease. T2 weighted spin echo (TR = 1800, TE = 120) images and inversion recovery (TR = 2100, TI = 500-600, TE = 40) images were obtained at the same axial planes. Periventricular nodules were better seen, because of their calcifications, with CT than with MR imaging. They were demonstrated as iso- to low intensity depending on the amount of calcification on T2 weighted images, and as a similar intensity to the white matter on IR images. Small peripheral lesions in the hemispheres, which were only occasionally seen as small low density areas on CT scans, were well demonstrated on MR images. These foci were hyperintense on T2 weighted images, and hypointense on IR images. Exact location of these was not in the cortex, but in the subcortical white matter. The findings indicate that these foci represent the pathologically well known demyelinating foci, which are commonly present under the cortical tuber, but may be independent of them. Cortical tubers were not confidently identified, which suggested that they might have similar intensity to the cortical gray matter.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed2001

Tuberous sclerosis: diffusion MRI findings in the brain.

Diffusion MRI has mainly been used for detection of acute ischemia, and for distinction of cytotoxic and vasogenic edema. We applied diffusion MRI in patients with tuberous sclerosis in order to evaluate diffusion imaging characteristics of parenchymal changes. Five children with known tuberous sclerosis were included in this study. The MRI examinations were performed on a 1.5-T MR unit. Diffusion MRI was obtained using the echo-planar imaging sequence. Apparent diffusion coefficient (ADC) values from the abnormal brain parenchyma were calculated directly from automatically generated ADC maps. Seven normal children were available for comparison. In this control group the mean ADC value of the normal white matter was 0.84 +/- 0.12 x 10(-3) mm(2)/s. In tuberous sclerosis patients the mean ADC value of the white matter hamartomas ( n=20) was apparently high (1.52 +/- 0.24 x 10(-3) mm(2)/s) compared with that of normal white matter. The ADC value of calcified hamartomas was "zero". The ADC value within a giant cell tumor was 0.89 x 10(-3) mm(2)/s, similar to that of normal cerebral white matter. The ADC maps were superior to b=1000 s/mm(2) (true diffusion) images with respect to lesion evaluation, and they provided mathematical information on tissue integrity. With respect to detection of the exact numbers and sizes of the parenchymal hamartomas fluid-attenuated inversion recovery images were superior to ADC maps. It is believed that diffusion MRI can be useful in evaluation of various parenchymal changes associated with tuberous sclerosis. Further studies on tuberous sclerosis, and on various brain lesions, would provide increasing data on this relatively new MRI sequence.

Brain↗
PubMed2006

Effects of postharvest storage and dormancy status on ABA content, metabolism, and expression of genes involved in ABA biosynthesis and metabolism in potato tuber tissues.

At harvest, and for an indeterminate period thereafter, potato tubers will not sprout and are physiologically dormant. Abscisic acid (ABA) has been shown to play a critical role in tuber dormancy control but the mechanisms controlling ABA content during dormancy as well as the sites of ABA synthesis and catabolism are unknown. As a first step in defining the sites of synthesis and cognate processes regulating ABA turnover during storage and dormancy progression, gene sequences encoding the ABA biosynthetic enzymes zeaxanthin epoxidase (ZEP) and 9-cis-epoxycarotenoid dioxygenase (NCED) and three catabolism-related genes were used to quantify changes in their relative mRNA abundances in three specific tuber tissues (meristems, their surrounding periderm and underlying cortex) by qRT-PCR. During storage, StZEP expression was relatively constant in meristems, exhibited a biphasic pattern in periderm with transient increases during early and mid-to-late-storage, and peaked during mid-storage in cortex. Expression of two members of the potato NCED gene family was found to correlate with changes in ABA content in meristems (StNCED2) and cortex (StNCED1). Conversely, expression patterns of three putative ABA-8'-hydroxylase (CYP707A) genes during storage varied in a tissue-specific manner with expression of two of these genes rising in meristems and periderm and declining in cortex during storage. These results suggest that ABA synthesis and metabolism occur in all tuber tissues examined and that tuber ABA content during dormancy is the result of a balance of synthesis and metabolism that increasingly favors catabolism as dormancy ends and may be controlled at the level of StNCED and StCYP707A gene activities.

Abscisic Acid↗
PubMed2004

Epilepsy surgery for tuberous sclerosis.

Tuberous sclerosis complex is often associated with medically refractory epilepsy secondary to cortical tubers. Previous studies have identified an association between early seizure onset, greater seizure burden, and mental retardation in childhood. Early effective seizure control could therefore significantly reduce the adverse developmental effects of chronic epilepsy in tuberous sclerosis complex. In medically intractable epileptic patients, surgical treatment has been demonstrated to reduce or abolish seizures and the associated burden for the child and its environment. Epilepsy surgery has not been widely used in patients with tuberous sclerosis complex thus far, mostly because of the concern that the multifocal nature of the cortical lesions could be associated with the development of independent epileptogenic zones. Advances in electroencephalographic techniques, functional neuroimaging, and invasive cortical mapping are changing this view and allowing an increased number of tuberous sclerosis complex patients to be evaluated for resective surgery. Additional techniques emerging in the neurosurgical field may add further treatment options to the current state of the art.

Anticonvulsants↗
PubMed2004

Polyphenol oxidase expression in potato (Solanum tuberosum) tubers inhibited to sprouting by treatment with iodine atmosphere.

Iodine-saturated atmosphere was found to inhibit the sprouting of potato (Solanum tuberosum L.) tubers. The iodine concentration in tuber tissues increased as a function of exposure length, and the onset of inhibition of sprouting was found to depend on tubers genotype. During the time-course of the treatment, the transcription of polyphenol oxidases (EC 1.10.3.1 and EC 1.14.18.1) was undetectable in tuber peel, whereas in bud tissues featured an increase, followed by a decrease occurring simultaneously with the suppression of sprouting. The treatment of tubers with iodine strongly affected the expression of polyphenol oxidases at the transcriptional level. Polyphenol oxidase activity in buds poorly reflected the corresponding level of transcription; similarly, little differences were found among the enzyme isoforms expressed in buds as a function of length of exposure to iodine. These findings suggest that the induction of polyphenol oxidases mRNAs transcription could probe the inhibition of sprouting by iodine.

Blotting, Northern↗
PubMed1998

CT and MR imaging of cerebral tuberous sclerosis.

Tuberous sclerosis is a heredofamilial neurocutaneous syndrome, or phakomatosis, with multisystem involvement including the brain, kidney, skin, retina, heart, lung, and bone. The brain is the most frequently affected organ in tuberous sclerosis. Brain lesions in tuberous sclerosis are of three kinds; cortical tubers, white matter abnormalities, and subependymal nodules. We review the computed tomography (CT) and magnetic resonance (MR) features of the brain lesions in patients with tuberous sclerosis. CT clearly demonstrates calcified subependymal nodules. MR imaging demonstrates more clearly cortical, and white matter lesions than CT, since MR imaging shows excellent image contrast between various normal structures and high sensitivity in detecting pathological states due to intrinsic differences in proton density and in particular, in proton relaxation times of tissues. Possible pathogenesis of this disorder is also discussed.

Brain↗
PubMed1999

Neurological prognosis correlated with variations over time in the number of subependymal nodules in tuberous sclerosis.

In tuberous sclerosis (TS), brain CT reveals subependymal nodules, cortical tubers and white matter lesions. This study is a retrospective analysis of the relationship between the variations over time in the number of subependymal nodules and the clinical course in cases of tuberous sclerosis. Twenty-four children with tuberous sclerosis, who attended the National Children's Hospital as outpatients, were followed by means of brain CT examinations for 7 years and 1 month on average. Cranial MRI was also performed in 22 cases. Brain CT disclosed subependymal nodules already in early infancy. In almost all cases, the number of subependymal nodules gradually increased with age, especially around the frontal horn of the lateral ventricle. The increase stopped at around age 10. The cases with five or more subependymal nodules at the initial or subsequent CT examination ( 17 patients; Group A) exhibited a significantly greater number of cortical tubers than those with less than five (five patients; Group B) and had white matter lesions unlike Group B. In addition, the number of cases with either infantile spasms or mental retardation was significantly higher in Group A than Group B (P < 0.005). In conclusion, the number of ventricular subependymal nodules may allow prediction of the severity of the cerebral dysfunction in TS. Our results suggest that its variation may reflect the degree of the embryologic disorder when neuronal cells grow in the early gestational period.

Adolescent↗
PubMed2001

Widespread anatomical abnormalities of grey and white matter structure in tuberous sclerosis.

BACKGROUND: Neuroimaging studies of tuberous sclerosis complex (TSC) have previously focused mainly on tubers or subependymal nodules. Subtle pathological changes in the structure of the brain have not been studied in detail. Computationally intensive techniques for reliable morphometry of brain structure are useful in disorders like TSC, where there is little prior data to guide selection of regions of interest. METHODS: Dual-echo, fast spin-echo MRI data were acquired from 10 TSC patients of normal intelligence and eight age-matched controls. Between-group differences in grey matter, white matter and cerebrospinal fluid were estimated at each intracerebral voxel after registration of these images in standard space; a permutation test based on spatial statistics was used for inference. CSF-attenuated FLAIR images were acquired for neuroradiological rating of tuber number. RESULTS: Significant deficits were found in patients, relative to comparison subjects, of grey matter volume bilaterally in the medial temporal lobes, posterior cingulate gyrus, thalamus and basal ganglia, and unilaterally in right fronto-parietal cortex (patients -20%). We also found significant and approximately symmetrical deficits of central white matter involving the longitudinal fasciculi and other major intrahemispheric tracts (patients -21%); and a bilateral cerebellar region of relative white matter excess (patients +28%). Within the patient group, grey matter volume in limbic and subcortical regions of deficit was negatively correlated with tuber count. CONCLUSIONS: Neuropathological changes associated with TSC may be more extensive than hitherto suspected, involving radiologically normal parenchymal structures as well as tubers, although these two aspects of the disorder may be correlated.

Adult↗
PubMed2005

Ectopic expression of anthocyanin 5-o-glucosyltransferase in potato tuber causes increased resistance to bacteria.

The principal goal of this paper was to investigate the significance of anthocyanin 5-O-glucosyltransferase (5-UGT) for potato tuber metabolism. The ectopic expression of a 5-UGT cDNA in the tuber improved the plant's defense against pathogen infection. The resistance of transgenic lines against Erwinia carotovora subsp. carotovora was about 2-fold higher than for nontransformed plants. In most cases the pathogen resistance was accompanied by a significant increase in tuber yield. To investigate the molecular basis of transgenic potato resistance, metabolic profiling of the plant was performed. In tuber extracts, the anthocyanin 3,5-O-substituted level was significantly increased when compared to that of the control plant. Of six anthocyanin compounds identified, the highest quantity for pelargonidin 3-rutinoside-5-glucoside acylated with p-coumaric acid and peonidin 3-rutinoside-5-glucoside acylated with p-coumaric acid was detected. A significant increase in starch and a decrease in sucrose level in transgenic tubers have been detected. The level of all other metabolites (amino acids, organic acids, polyamines, and fatty acids) was quite the same as in nontransformants. The plant resistance to bacterial infection correlates with anthocyanin content and sucrose level. The properties of recombinant glucosyltransferase were analyzed in in vitro experiments. The enzyme kinetics and its biochemical properties were similar to those from other sources.

Anthocyanins↗
PubMed2006

Selection criteria for potato tubers to minimize acrylamide formation during frying.

A number of parameters linked to the selection of potato tubers were evaluated with regard to their potential to influence acrylamide formation in French fries. The formation of acrylamide, which is a potential human carcinogen, can be minimized for a big extent by the selection of an appropriate tuber. This study focused on the following selection criteria: variety as influenced by storage time and soil type, underwater weight, and tuber size. A total of 16 varieties were compared, concerning their potential for acrylamide formation. From that survey, certain varieties, such as Tebina and Quincy, could be appointed as unsuitable for frying. The differences in the potential of acrylamide formation between the varieties could mainly be explained by the reducing sugar content of the potato (R2 = 0.82, n = 96). The investigated type of soil and storage time at 8 degrees C appeared to have a minor influence on the acrylamide formation during frying. On the other hand, the tuber size of the potato did contribute in a significant manner to the acrylamide formation. Smaller tubers were more susceptible to acrylamide formation and should be avoided in the frying process. The last selection parameter, the underwater weight, appeared to be of minor importance in the acrylamide formation. On the basis of these simple selection criteria, it is possible to make a first screening of potatoes to reduce the acrylamide formation during frying.

Acrylamides↗
PubMed2000

Tuberous sclerosis complex.

Tuberous sclerosis complex is an autosomal dominant disorder that causes significant complications in multiple organ systems. Both basic science and clinical research on tuberous sclerosis complex have flourished in recent years, improving our understanding of its molecular genetics and pathophysiology. Two tuberous sclerosis complex genes cause nearly identical phenotypes, and great progress has been made towards understanding how each of these genes functions. The recognition of tuberous sclerosis complex improved with revised diagnostic criteria, and the management of many of the complications of tuberous sclerosis complex has improved.

Epilepsy↗