Isolation and Functional Characterization of Two SHORT VEGETATIVE PHASE Homologous Genes from Mango.

The SHORT VEGETATIVE PHASE (SVP) gene is a transcription factor that integrates flowering signals and plays an important role in the regulation of flowering time in many plants. In this study, two full-length cDNA sequences of SVP homologous genes-MiSVP1 and MiSVP2-were obtained from 'SiJiMi' mango. Sequence analysis showed that the MiSVPs had typical MADS-box domains and were highly conserved between each other. The analysis of expression patterns showed that the MiSVPs were expressed during flower development and highly expressed in vegetative tissues, with low expression in flowers/buds. The MiSVPs could responded to low temperature, NaCl, and PEG treatment. Subcellular localization revealed that MiSVP1 and MiSVP2 were localized in the nucleus. Transformation of Arabidopsis revealed that overexpression of MiSVP1 delayed flowering time, overexpression of MiSVP2 accelerated flowering time, and neither MiSVP1 nor MiSVP2 had an effect on the number of rosette leaves. Overexpression of MiSVP1 increased the expression of AtFLC and decreased the expression of AtFT and AtSOC1, and overexpression of MiSVP2 increased the expression levels of AtSOC1 and AtFT and decreased the expression levels of AtFLC. Point-to-point and bimolecular fluorescence complementation (BiFC) assays showed that MiSVP1 and MiSVP2 could interact with SEP1-1, SOC1D, and AP1-2. These results suggest that MiSVP1 and MiSVP2 may play a significant roles in the flowering process of mango.

Brain-derived neurotrophic factor (Val66Met) polymorphism does not influence recovery from a post-traumatic vegetative state: a blinded retrospective multi-centric study.

Brain-derived neurotrophic factor (BDNF) is a neurotrophin that influences neuronal plasticity throughout life. Emergence from a vegetative state (VS) after a traumatic brain injury (TBI) implies that the brain undergoes plastic changes. A common polymorphism in the BDNF gene--BDNF Val66Met (referred to herein as BDNF(Met))--impairs cognitive function in healthy subjects. The aim of this study was to determine whether the BDNF(Met) polymorphism plays a role in the recovery of consciousness and cognitive functions in patients in a VS after a TBI. Fifty-three patients in a VS 1 month after a TBI were included in the study and genotyped for the BDNF(Met) polymorphism. Scores of levels of cognitive functioning (LCF) at 1, 3, 6, and 12 months post-TBI were retrospectively compared in patients without (Val group), and with (Met group), the BDNF(Met) polymorphism. The BDNF(Met) polymorphism was detected in 20 out of the 53 patients. The mean LCF scores in the Val and Met groups were 1.6±0.5 and 1.4±0.5 at 1 month, 2.3±0.7 and 2.5±1.2 at 3 months, 3.3±1.7 and 3.5±1.7 at 6 months, and 4±1.9 and 3.9±1.8 at 12 months, respectively (p>0.05). The percentages of patients in the Val and Met groups who emerged from the VS were 36.4% and 30% at 3 months, 66.3% and 70% at 6 months, and 70% and 87.5% at 12 months (p>0.05), respectively. These findings provide evidence that the BDNF(Met) polymorphism is not involved in cognitive improvement in patients with a VS following TBI. Future studies should focus on the role of other BDNF polymorphisms in the recovery from a VS.

Head trauma can initiate the onset of adreno-leukodystrophy.

X-linked adreno-leukodystrophy and its adult variant, adrenomyeloneuropathy, are caused by mutations in ABCD1 that encodes a peroxisomal membrane protein of unknown physiological significance. In spite of identical mutations, they can have markedly divergent neurological and neuropathologic characteristics. Adreno-leukodystrophy classically presents in normal boys with mild neuropsychiatric features, which progress to frank neurological signs, the vegetative state and death in approximately three years. Adrenomyeloneuropathy typically affects young men with spastic paraparesis and sensory ataxia that can progress over decades. The neuropathologic correlate for adreno-leukodystrophy is severe inflammatory demyelination of posterior cerebral white matter, while a chronic distal axonopathy of spinal cord and peripheral nerve occurs in adrenomyeloneuropathy. Consequently, both modifier genes and environmental factors have been implicated in their pathogeneses. We report five cases of adreno-leukodystrophy whose onsets were initiated by moderate to severe head trauma, two of whom were conversions from adrenomyeloneuropathy. Their clinical courses were rapidly incapacitating, short (i.e., weeks to a few years) and fatal due to marked cerebral inflammatory demyelination. These cases, in concert with several previous reports, indicate that head trauma is one environmental factor that can have a profoundly deleterious effect on those genetically at risk for, or with milder clinical phenotypes of, this disease. Avoidance of potential head trauma and a rapid response to episodes of moderate to severe head trauma in this patient population seem prudent.

Acute onset of fatal vegetative symptoms: unusual presentation of adult Alexander disease.

Since genetic analysis of the GFAP gene for the diagnosis of adult Alexander disease (AD) has been established in 2001, several cases of both sporadic and familial cases of AD have been described. Except for one patient, all subjects revealed glial fibrillary acidic protein (GFAP) mutations, and clinical progression of symptoms, mainly bulbar and pseudobulbar, were moderate. Here we report on a patient with acute onset of vegetative symptoms, rapid progression, and death within 2 months. Although histology and final magnetic resonance imaging (MRI) were characteristic of AD, sequencing of the encoding GFAP gene revealed no mutation. We believe that this case report expands the so far known clinical spectrum and MRI dynamics of adult AD, and suggest that analysis of the coding part of GFAP may be inconclusive in rare cases. In such patients, only histology may lead to definitive diagnosis.

Lack of association between the IL1A gene (-889) polymorphism and outcome after head injury.

BACKGROUND: Interleukin (IL) 1 is a proinflammatory cytokine that has been identified as an important mediator of neurodegeneration induced by ischemia or traumatic brain injury. Accumulating evidence to date has suggested that the major cytokine contributing to neurodegeneration after head injury is IL-1beta rather than IL-1alpha; however, there is no sufficient data regarding IL-1alpha in literature, and there may be an association between IL1A gene polymorphism and outcome after head injury. METHODS: We performed a prospective clinical study and included a recruited series of 71 patients who had head injury and were admitted to our neurosurgical unit. Severity of initial injury was assessed by the Glasgow Coma Scale. Outcome at 6 months after injury was assessed by means of the Glasgow Outcome Score. Interleukin 1alpha genotypes were determined from blood samples by standard methods. RESULTS: Of 40 patients with IL1A*2, 18 (45%) had an unfavorable outcome (dead, vegetative state, or severe disability) compared with 7 (22.5%) of 31 without IL1A*2 (P = .08). CONCLUSION: Our findings show that there is no genetic association between IL1A gene polymorphism and outcome after head injury. Further clinical studies should be designed to confirm and further evaluate these findings.

[Association between apolipoprotein E gene polymorphism and the patients with persistent vegetative state in the Chinese].

We studied the relationship between apolipoprotein E gene polymorphism and persistent vegetative state (PVS) to explore the genetics background of PVS, and evaluated the effect of ApoE gene polymorphism on lipid levels in plasma. The ApoE genotype of fifty-six patients with PVS and fifty-three controls were determined by PCR and restriction fragment length polymorphism (PCR-RFLP). Plasma lipid levels were measured by using routine methods. Results demonstrated that there were five genotypes in the two groups: E3/3, E3/4, E2/2, E2/3 and E2/4. The genotype frequencies of ApoE gene in PVS were 21(37.5%), 26(46.4%), 2 (3.6%), 5(8.9%), 2(3.6%) and that in control were 37(69.8%), 7(13.2%), 2(3.8%) 5(9.4%), 2(3.8%) respectively. We compared the genotype frequencies between the two groups and found there was a significantly increase in E3/4(chi 2 = 14.236, P < 0.001) and decrease in E3/3(chi 2 = 5.348, P < 0.05). epsilon 2, epsilon 3 and epsilon 4 allele frequencies of ApoE were 11(9.8%), 73(65.2%), 28(25%) in PVS and were 11 (10.4%), 86(81.1%), 9(8.5%) in control respectively. Allele frequencies, significantly increased in epsilon 4 (chi 2 = 10.533, P < 0.001) and decreased in epsilon 3 (chi 2 = 7.022, P < 0.01). We also found that E3/4, E2/4 genotype and epsilon 4 allele can largely increase total cholesterol (TC) and lower density lipoprotein cholesterol (LDL-C) levels in plasma, and epsilon 2 alleles also can largely increase LDL-C levels inplasma. Our finding indicates that the ApoE gene polymorphism may be in association with the PVS, and may be a factor in the genetic susceptibility to PVS in Chinese; Genotype and alleles of ApoE in PVS can affect the lipid levels in plasma.

Fatal familial insomnia: clinical features and molecular genetics.

Fatal familial insomnia (FFI) is an autosomal dominant prion disease clinically characterized by inattention, sleep loss, dysautonomia, and motor signs and pathologically characterized by a preferential thalamic degeneration. FFI is linked to a missense mutation at codon 178 of the prion protein gene, PRNP, coupled with the presence of the codon methionine at position 129, the locus of a methionine-valine polymorphism. Homozygotes at codon 129, expressing methionine also in the nonmutated allele, have a shorter disease course (often less than 1 year), prominent sleep and autonomic disturbances at disease onset, and pathology restricted to the thalamus. Heterozygotes at codon 129, expressing valine in the nonmutated allele, have a longer disease course (often longer than 1 year), ataxia and dysarthria at disease onset, and lesions widespread to cerebral cortex. Both in the thalamus and in the cortex, the limbic structures are those most consistently and severely involved: the anterior ventral and mediodorsal thalamic nuclei, the cingulate gyrus, and the orbitofrontal cortex. FFI is thus a prion disease selectively damaging the thalamocortical limbic structures. Loss of sleep, sympathetic hyperactivity, and flattening of vegetative and hormonal circadian oscillations characterize FFI and result from a homeostatic imbalance caused by the interruption of the thalamocortical limbic circuits, the phylogenetically most advanced structures involved in the control of the sleep-wake cycle and the body's homeostasis. The selective atrophy of the limbic thalamus that characterizes FFI might be due to the binding of FFI toxic PrP or PrPres to specific receptors on thalamolimbic neurons.

The Aicardi-Goutières syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis).

Aicardi-Goutières syndrome (Mendelian inheritance in man Catalog No *225750) is an autosomal recessive encephalopathy which causes developmental arrest, intracerebral calcification, and white matter disease in the presence of chronic cerebrospinal fluid lymphocytosis, and a raised level of cerebrospinal fluid interferon-alpha (IFN-alpha). Diagnosis requires the presence of progressive encephalopathy with onset shortly after birth, and characteristic clinical neurological and neuroimaging signs together with chronic CSF lymphocytosis. The syndrome has superficial resemblance to the neurological sequelae of congenital infection, thus a rigorous search for microbiological and serological evidence of embryopathic infections should be carried out in each case.