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פותח על ידי קלירמאש פתרונות בע"מ -
Dynamic changes in IKBKAP mRNA levels during crisis of familial dysautonomia patients
Year:
2014
Authors :
לייבה, אפרת
;
.
Volume :
180
Co-Authors:
Cheishvili, D., Israeli Familial Dysautonomia Center, Department of Pediatrics, Hadassah University Hospital, Mount Scopus, The Hebrew University Hadassah Medical School, Jerusalem, Israel, Department of Developmental Biology and Cancer Research, Institute of Medical Research Israel-Canada, The Hebrew University Hadassah Medical School, Jerusalem, Israel
Laiba, E., Israeli Familial Dysautonomia Center, Department of Pediatrics, Hadassah University Hospital, Mount Scopus, The Hebrew University Hadassah Medical School, Jerusalem, Israel, Department of Developmental Biology and Cancer Research, Institute of Medical Research Israel-Canada, The Hebrew University Hadassah Medical School, Jerusalem, Israel
Rekhtman, D., Israeli Familial Dysautonomia Center, Department of Pediatrics, Hadassah University Hospital, Mount Scopus, The Hebrew University Hadassah Medical School, Jerusalem, Israel
Claman, A., Israeli Familial Dysautonomia Center, Department of Pediatrics, Hadassah University Hospital, Mount Scopus, The Hebrew University Hadassah Medical School, Jerusalem, Israel
Razin, A., Department of Developmental Biology and Cancer Research, Institute of Medical Research Israel-Canada, The Hebrew University Hadassah Medical School, Jerusalem, Israel
Maayan, C., Israeli Familial Dysautonomia Center, Department of Pediatrics, Hadassah University Hospital, Mount Scopus, The Hebrew University Hadassah Medical School, Jerusalem, Israel
Facilitators :
From page:
59
To page:
65
(
Total pages:
7
)
Abstract:
Familial dysautonomia is a neurodegenerative, genetic disorder caused by an autosomal recessive mutation in the IKBKAP gene, which encodes the IkB kinase complex-associated protein. Familial dysautonomia patients have recurrent crises characterized by bouts of nausea, vomiting, hypertension, tachycardia, sweating, blotching and personality changes. The dysautonomia crisis is usually triggered by stressful physiological or emotional events, however the pathophysiology of the crisis is not yet fully clear and little is known about the molecular mechanisms involved in onset and consequences of the crisis. Objective: We have investigated the dysautonomia crisis by evaluating the expression of the familial dysautonomia gene - IKBKAP, in patients during different crisis stages. Method: Baseline IKBKAP mRNA levels in white blood cells were evaluated in thirteen FD patients (fourteen crisis events) and compared to mRNA levels at the onset, during, and after recovery from the crisis. Results: We have found a significant decrease in IKBKAP mRNA level during the crisis, which is restored to a baseline level after recovery from the crisis. Conclusion: We speculate that the familial dysautonomia crisis pathophysiology might be related, at least in part, to the down regulation of the IKBKAP gene. Yet, it is still unclear whether the down regulation in IKBKAP mRNA is caused by the physiological stress events which have triggered the crisis or whether this molecular change is a consequence of the crisis. © 2013 Elsevier B.V.
Note:
Related Files :
Female
gene expression
i kappa b kinase complex associated protein
Male
stress
עוד תגיות
תוכן קשור
More details
DOI :
10.1016/j.autneu.2013.10.009
Article number:
Affiliations:
Database:
סקופוס
Publication Type:
מאמר
;
.
Language:
אנגלית
Editors' remarks:
ID:
21692
Last updated date:
02/03/2022 17:27
Creation date:
16/04/2018 23:46
Scientific Publication
Dynamic changes in IKBKAP mRNA levels during crisis of familial dysautonomia patients
180
Cheishvili, D., Israeli Familial Dysautonomia Center, Department of Pediatrics, Hadassah University Hospital, Mount Scopus, The Hebrew University Hadassah Medical School, Jerusalem, Israel, Department of Developmental Biology and Cancer Research, Institute of Medical Research Israel-Canada, The Hebrew University Hadassah Medical School, Jerusalem, Israel
Laiba, E., Israeli Familial Dysautonomia Center, Department of Pediatrics, Hadassah University Hospital, Mount Scopus, The Hebrew University Hadassah Medical School, Jerusalem, Israel, Department of Developmental Biology and Cancer Research, Institute of Medical Research Israel-Canada, The Hebrew University Hadassah Medical School, Jerusalem, Israel
Rekhtman, D., Israeli Familial Dysautonomia Center, Department of Pediatrics, Hadassah University Hospital, Mount Scopus, The Hebrew University Hadassah Medical School, Jerusalem, Israel
Claman, A., Israeli Familial Dysautonomia Center, Department of Pediatrics, Hadassah University Hospital, Mount Scopus, The Hebrew University Hadassah Medical School, Jerusalem, Israel
Razin, A., Department of Developmental Biology and Cancer Research, Institute of Medical Research Israel-Canada, The Hebrew University Hadassah Medical School, Jerusalem, Israel
Maayan, C., Israeli Familial Dysautonomia Center, Department of Pediatrics, Hadassah University Hospital, Mount Scopus, The Hebrew University Hadassah Medical School, Jerusalem, Israel
Dynamic changes in IKBKAP mRNA levels during crisis of familial dysautonomia patients
Familial dysautonomia is a neurodegenerative, genetic disorder caused by an autosomal recessive mutation in the IKBKAP gene, which encodes the IkB kinase complex-associated protein. Familial dysautonomia patients have recurrent crises characterized by bouts of nausea, vomiting, hypertension, tachycardia, sweating, blotching and personality changes. The dysautonomia crisis is usually triggered by stressful physiological or emotional events, however the pathophysiology of the crisis is not yet fully clear and little is known about the molecular mechanisms involved in onset and consequences of the crisis. Objective: We have investigated the dysautonomia crisis by evaluating the expression of the familial dysautonomia gene - IKBKAP, in patients during different crisis stages. Method: Baseline IKBKAP mRNA levels in white blood cells were evaluated in thirteen FD patients (fourteen crisis events) and compared to mRNA levels at the onset, during, and after recovery from the crisis. Results: We have found a significant decrease in IKBKAP mRNA level during the crisis, which is restored to a baseline level after recovery from the crisis. Conclusion: We speculate that the familial dysautonomia crisis pathophysiology might be related, at least in part, to the down regulation of the IKBKAP gene. Yet, it is still unclear whether the down regulation in IKBKAP mRNA is caused by the physiological stress events which have triggered the crisis or whether this molecular change is a consequence of the crisis. © 2013 Elsevier B.V.
Scientific Publication
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