Abstract | UNLABELLED:
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: 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.
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Authors | David Cheishvili, Efrat Laiba, David Rekhtman, Ariel Claman, Aharon Razin, Channa Maayan |
Journal | Autonomic neuroscience : basic & clinical
(Auton Neurosci)
Vol. 180
Pg. 59-65
(Feb 2014)
ISSN: 1872-7484 [Electronic] Netherlands |
PMID | 24268683
(Publication Type: Comparative Study, Journal Article, Research Support, Non-U.S. Gov't)
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Copyright | © 2013. |
Chemical References |
- Carrier Proteins
- Elp1 protein, human
- RNA, Messenger
- Transcriptional Elongation Factors
|
Topics |
- Acute Disease
- Adolescent
- Adult
- Carrier Proteins
(biosynthesis, genetics, physiology)
- Causality
- Child
- Child, Preschool
- Convalescence
- Down-Regulation
- Dysautonomia, Familial
(genetics, physiopathology)
- Female
- Gene Expression Regulation
- Humans
- MAP Kinase Signaling System
(physiology)
- Male
- RNA, Messenger
(biosynthesis)
- Real-Time Polymerase Chain Reaction
- Stress, Physiological
- Transcription, Genetic
- Transcriptional Elongation Factors
- Young Adult
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