Screen for CACNA1A and ATP1A2 Mutations in Sporadic Hemiplegic Migraine Patients

Cephalalgia ◽  
2008 ◽  
Vol 28 (9) ◽  
pp. 914-921 ◽  
Author(s):  
LL Thomsen ◽  
E Oestergaard ◽  
A Bjornsson ◽  
H Stefansson ◽  
AC Fasquel ◽  
...  
Keyword(s):  
Population Based ◽  
Causal Role ◽  
Danish Population ◽  
Promoter Regions ◽  
Hemiplegic Migraine ◽  
Functional Studies ◽  
Dna Variants ◽  
Atp1a2 Gene ◽  
Cacna1a Gene

The aim of this study was to investigate the involvement of the CACNA1A and ATP1A2 gene in a population-based sample of sporadic hemiplegic migraine (SHM). Patients with SHM ( n = 105) were identified in a nationwide search in the Danish population. We sequenced all exons and promoter regions of the CACNA1A and ATP1A2 genes in 100 patients with SHM to search for possible SHM mutations. Novel DNA variants were discovered in eight SHM patients, four in exons of the CACNA1A gene and four in exons of the ATP1A2 gene. Six of the variants were considered non-pathogenic. The causal role of the two remaining DNA variants is unknown until functional studies have been made or independent genetic evidence is discovered. Only very few DNA variants were identified in 100 SHM patients, and regardless of whether the identified variants are causal the CACNA1A and ATP1A2 genes are not major genes in SHM.

Trigger factors for familial hemiplegic migraine

Cephalalgia ◽  
2011 ◽  
Vol 31 (12) ◽  
pp. 1274-1281 ◽  
Author(s):  
Jakob Møller Hansen ◽  
Anne Werner Hauge ◽  
Messoud Ashina ◽  
Jes Olesen
Keyword(s):  
Migraine With Aura ◽  
Response Rate ◽  
Bright Light ◽  
Familial Hemiplegic Migraine ◽  
Population Based ◽  
Trigger Factor ◽  
Trigger Factors ◽  
Hemiplegic Migraine

Objective: The aim was to identify and describe migraine trigger factors in patients with familial hemiplegic migraine (FHM) from a population-based sample. Methods: 127 FHM patients were sent a questionnaire listing 16 trigger factors. Distinction was made between attacks of hemiplegic migraine (HM) and migraine with aura (MA) or without aura (MO) within each patient. Results: The response rate was 59% (75/127) of whom 57 (76%) had current HM attacks. Sixty-three per cent (47/75) reported at least one factor triggering HM, and 36% (27/75) reported at least one factor that often or always caused HM. Twenty per cent (15/75) reported only HM, whereas FHM in combinations with MA and MO were reported by 80% (60/75). Stress (with attacks either following or during the stress), bright light, intense emotional influences and sleeping too much or too little were the trigger factors mentioned by most. Conclusion: Many FHM patients report trigger factors and one-third reported at least one trigger factor often or always triggering FHM. The typical triggers are the same as for MA. Patients should be educated to avoid these factors. The role of trigger factors in the onset of new or first attacks of FHM remains unknown.

scholarly journals Promoter Hypermethylation Promotes the Binding of Transcription Factor NFATc1, Triggering Oncogenic Gene Activation in Pancreatic Cancer

Cancers ◽  
2021 ◽  
Vol 13 (18) ◽  
pp. 4569
Author(s):  
Yenan Wu ◽  
Lea Kröller ◽  
Beiping Miao ◽  
Henning Boekhoff ◽  
Andrea S. Bauer ◽  
...  
Keyword(s):  
Transcription Factors ◽  
Gene Activation ◽  
Promoter Hypermethylation ◽  
Ductal Adenocarcinoma ◽  
Promoter Regions ◽  
Functional Studies ◽  
Computational Analyses ◽  
Oncogenic Gene ◽  
Was Gene

Studies have indicated that some genes involved in carcinogenesis are highly methylated in their promoter regions but nevertheless strongly transcribed. It has been proposed that transcription factors could bind specifically to methylated promoters and trigger transcription. We looked at this rather comprehensively for pancreatic ductal adenocarcinoma (PDAC) and studied some cases in more detail. Some 2% of regulated genes in PDAC exhibited higher transcription coupled to promoter hypermethylation in comparison to healthy tissue. Screening 661 transcription factors, several were found to bind specifically to methylated promoters, in particular molecules of the NFAT family. One of them—NFATc1—was substantially more strongly expressed in PDAC than control tissue and exhibited a strong oncogenic role. Functional studies combined with computational analyses allowed determining affected genes. A prominent one was gene ALDH1A3, which accelerates PDAC metastasis and correlates with a bad prognosis. Further studies confirmed the direct up-regulation of ALDH1A3 transcription by NFATc1 promoter binding in a methylation-dependent process, providing insights into the oncogenic role of transcription activation in PDAC that is promoted by DNA methylation.

Ionic homeostasis and subcellular element compartmentation

1990 ◽  
Vol 48 (2) ◽  
pp. 150-151
Author(s):  
Ann LeFurgey ◽  
Peter Ingram ◽  
J.J. Blum ◽  
M.C. Carney ◽  
L.A. Hawkey ◽  
...  
Keyword(s):  
Leishmania Major ◽  
Ionic Homeostasis ◽  
X Ray ◽  
Functional Studies ◽  
Cell Compartments ◽  
X Ray Imaging ◽  
Resolution Electron ◽  
Multiple Cell ◽  
Role Of Zn

Subcellular compartments commonly identified and analyzed by high resolution electron probe x-ray microanalysis (EPXMA) include mitochondria, cytoplasm and endoplasmic or sarcoplasmic reticulum. These organelles and cell regions are of primary importance in regulation of cell ionic homeostasis. Correlative structural-functional studies, based on the static probe method of EPXMA combined with biochemical and electrophysiological techniques, have focused on the role of these organelles, for example, in maintaining cell calcium homeostasis or in control of excitation-contraction coupling. New methods of real time quantitative x-ray imaging permit simultaneous examination of multiple cell compartments, especially those areas for which both membrane transport properties and element content are less well defined, e.g. nuclei including euchromatin and heterochromatin, lysosomes, mucous granules, storage vacuoles, microvilli. Investigations currently in progress have examined the role of Zn-containing polyphosphate vacuoles in the metabolism of Leishmania major, the distribution of Na, K, S and other elements during anoxia in kidney cell nuclel and lysosomes; the content and distribution of S and Ca in mucous granules of cystic fibrosis (CF) nasal epithelia; the uptake of cationic probes by mltochondria in cultured heart ceils; and the junctional sarcoplasmic retlculum (JSR) in frog skeletal muscle.

Do Writing Directions Influence How People Map Space onto Time?

2018 ◽  
Vol 77 (4) ◽  
pp. 173-184
Author(s):  
Wenxing Yang ◽  
Ying Sun
Keyword(s):  
Mental Representations ◽  
Space Time ◽  
Horizontal Axis ◽  
Causal Role ◽  
Writing Systems ◽  
Temporal Cognition ◽  
Japanese Speakers ◽  
Psychological Experiments ◽  
Vertical Up

Abstract. The causal role of a unidirectional orthography in shaping speakers’ mental representations of time seems to be well established by many psychological experiments. However, the question of whether bidirectional writing systems in some languages can also produce such an impact on temporal cognition remains unresolved. To address this issue, the present study focused on Japanese and Taiwanese, both of which have a similar mix of texts written horizontally from left to right (HLR) and vertically from top to bottom (VTB). Two experiments were performed which recruited Japanese and Taiwanese speakers as participants. Experiment 1 used an explicit temporal arrangement design, and Experiment 2 measured implicit space-time associations in participants along the horizontal (left/right) and the vertical (up/down) axis. Converging evidence gathered from the two experiments demonstrate that neither Japanese speakers nor Taiwanese speakers aligned their vertical representations of time with the VTB writing orientation. Along the horizontal axis, only Japanese speakers encoded elapsing time into a left-to-right linear layout, which was commensurate with the HLR writing direction. Therefore, two distinct writing orientations of a language could not bring about two coexisting mental time lines. Possible theoretical implications underlying the findings are discussed.

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