scholarly journals MECP2 and the Biology of MECP2 Duplication Syndrome

2021 ◽  
Author(s):  
Santosh R. D’Mello
Keyword(s):  
Mecp2 Duplication Syndrome ◽  
Duplication Syndrome

scholarly journals Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice

eLife ◽  
2014 ◽  
Vol 3 ◽  
Author(s):  
Laura Dean Heckman ◽  
Maria H Chahrour ◽  
Huda Y Zoghbi
Keyword(s):  
Transcriptional Repression ◽  
Neurological Disorder ◽  
Dominant Negative ◽  
Dominant Negative Effect ◽  
Loss Of Function ◽  
Gene Encoding ◽  
C Terminus ◽  
Mecp2 Duplication Syndrome ◽  
Negative Effect ◽  
Duplication Syndrome

Loss of function of the X-linked gene encoding methyl-CpG binding protein 2 (MeCP2) causes the progressive neurological disorder Rett syndrome (RTT). Conversely, duplication or triplication of Xq28 causes an equally wide-ranging progressive neurological disorder, MECP2 duplication syndrome, whose features overlap somewhat with RTT. To understand which MeCP2 functions cause toxicity in the duplication syndrome, we generated mouse models expressing endogenous Mecp2 along with a RTT-causing mutation in either the methyl-CpG binding domain (MBD) or the transcriptional repression domain (TRD). We determined that both the MBD and TRD must function for doubling MeCP2 to be toxic. Mutating the MBD reproduces the null phenotype and expressing the TRD mutant produces milder RTT phenotypes, yet both mutations are harmless when expressed with endogenous Mecp2. Surprisingly, mutating the TRD is more detrimental than deleting the entire C-terminus, indicating a dominant-negative effect on MeCP2 function, likely due to the disruption of a basic cluster.

scholarly journals Cortisol profiles and clinical severity in MECP2 duplication syndrome

2020 ◽  
Vol 12 (1) ◽  
Author(s):  
Sarika U. Peters ◽  
Cary Fu ◽  
Jeffrey L. Neul ◽  
Douglas A. Granger
Keyword(s):  
Clinical Severity ◽  
Mecp2 Duplication Syndrome ◽  
Duplication Syndrome

scholarly journals Deep brain stimulation for the management of seizures in MECP2 duplication syndrome

Seizure ◽  
2014 ◽  
Vol 23 (5) ◽  
pp. 405-407 ◽  
Author(s):  
Fabio A. Nascimento ◽  
Hanna Faghfoury ◽  
Timo Krings ◽  
Anfal Ali ◽  
Jonathan D. Fridhandler ◽  
...  
Keyword(s):  
Deep Brain Stimulation ◽  
Brain Stimulation ◽  
Mecp2 Duplication Syndrome ◽  
Duplication Syndrome ◽  
Deep Brain

scholarly journals Stereotyped Upper Limb Movement in MECP2 Duplication Syndrome

Neurology ◽  
2021 ◽  
pp. 10.1212/WNL.0000000000012130
Author(s):  
Tomohiro Wakabayashi ◽  
Shinobu Fukumura ◽  
Satoru Takahashi ◽  
Kenji Kurosawa ◽  
Shuichi Miyamoto ◽  
...  
Keyword(s):  
Upper Limb ◽  
Limb Movement ◽  
Mecp2 Duplication Syndrome ◽  
Duplication Syndrome

scholarly journals Increased Axonal Bouton Stability during Learning in the Mouse Model of MECP2 Duplication Syndrome

eNeuro ◽  
2018 ◽  
Vol 5 (3) ◽  
pp. ENEURO.0056-17.2018 ◽  
Author(s):  
Ryan T. Ash ◽  
Paul G. Fahey ◽  
Jiyoung Park ◽  
Huda Y. Zoghbi ◽  
Stelios M. Smirnakis
Keyword(s):  
Mouse Model ◽  
Mecp2 Duplication Syndrome ◽  
Duplication Syndrome
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