scholarly journals Functional coordination of BET family proteins underlies altered transcription associated with memory impairment in fragile X syndrome

2021 ◽  
Vol 7 (21) ◽  
pp. eabf7346
Author(s):  
Seung-Kyoon Kim ◽  
Xihui Liu ◽  
Jongmin Park ◽  
Dahun Um ◽  
Gokhul Kilaru ◽  
...  
Keyword(s):  
Fragile X Syndrome ◽  
Memory Impairment ◽  
Fragile X ◽  
Family Members ◽  
Chromatin Binding ◽  
Altered Expression ◽  
Transcriptional Dysregulation ◽  
With Memory ◽  
Transcriptional Induction ◽  
Pharmacologic Inhibition

Bromodomain and extraterminal proteins (BET) are epigenetic readers that play critical roles in gene regulation. Pharmacologic inhibition of the bromodomain present in all BET family members is a promising therapeutic strategy for various diseases, but its impact on individual family members has not been well understood. Using a transcriptional induction paradigm in neurons, we have systematically demonstrated that three major BET family proteins (BRD2/3/4) participated in transcription with different recruitment kinetics, interdependency, and sensitivity to a bromodomain inhibitor, JQ1. In a mouse model of fragile X syndrome (FXS), BRD2/3 and BRD4 showed oppositely altered expression and chromatin binding, correlating with transcriptional dysregulation. Acute inhibition of CBP/p300 histone acetyltransferase (HAT) activity restored the altered binding patterns of BRD2 and BRD4 and rescued memory impairment in FXS. Our study emphasizes the importance of understanding the BET coordination controlled by a balanced action between HATs with different substrate specificity.

scholarly journals Voice of People with Fragile X Syndrome and Their Families: Reports from a Survey on Treatment Priorities

2019 ◽  
Vol 9 (2) ◽  
pp. 18 ◽  
Author(s):  
Jayne Weber ◽  
Elizabeth Smith ◽  
Elizabeth Berry-Kravis ◽  
Diego Cadavid ◽  
David Hessl ◽  
...  
Keyword(s):  
Fragile X Syndrome ◽  
Behavioral Problems ◽  
Daily Living ◽  
Fragile X ◽  
Family Members ◽  
Family Impact ◽  
Treatment Development ◽  
Areas Of Concern ◽  
The Individual ◽  
Treatment Priorities

To date, there has been limited research on the primary concerns and treatment priorities for individuals with fragile X syndrome (FXS) and their families. The National Fragile X Foundation in collaboration with clinical investigators from industry and academia constructed a survey to investigate the main symptoms, daily living challenges, family impact, and treatment priorities for individuals with FXS and their families, which was then distributed to a large mailing list. The survey included both structured questions focused on ranking difficulties as well as qualitative analysis of open-ended questions. It was completed by 467 participants, including 439 family members or caretakers (family members/caretakers) of someone with FXS, 20 professionals who work with a person with FXS, and 8 individuals with FXS. Respondents indicated three main general areas of concern: Anxiety, behavioral problems, and learning difficulties. Important differences were noted, based on the sex and age of the individual with FXS. The results highlight the top priorities for treatment development for family members/caretakers, as well as a small group of professionals, and an even smaller group of individuals with FXS, while demonstrating challenges with “voice of the patient” research in FXS.

scholarly journals Specific memory impairment in a multiple disabled male with fragile X syndrome and temporal lobe epilepsy

2006 ◽  
Vol 48 (5) ◽  
pp. 378-382 ◽  
Author(s):  
Heidi Wouters ◽  
Annick Fonteyne ◽  
Peter Stiers
Keyword(s):  
Temporal Lobe Epilepsy ◽  
Fragile X Syndrome ◽  
Temporal Lobe ◽  
Memory Impairment ◽  
Fragile X ◽  
Specific Memory

Fragile X syndrome, mental retardation and macroorchidism

1998 ◽  
Vol 54 (4) ◽  
pp. 366-367
Keyword(s):  
Mental Retardation ◽  
Fragile X Syndrome ◽  
Fragile X

Living with Fragile X Syndrome

2017 ◽  
Author(s):  
◽  
Rebecca Schira ◽  
Samantha Alexander ◽  
Noelani Brisbane ◽  
Kaitlyn Williams
Keyword(s):  
Fragile X Syndrome ◽  
Fragile X

Effects of Sertraline Treatment for Young Children with Fragile X Syndrome: Family Perspectives via Case Studies

2019 ◽  
Author(s):  
◽  
Tracy Ye ◽  
Decerie Mendoza ◽  
Elena Javier ◽  
Martina Dualan
Keyword(s):  
Young Children ◽  
Case Studies ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Family Perspectives

Fragile X Syndrome and Family Occupations

2019 ◽  
Author(s):  
Decerie Mendoza ◽  
Tracy Ye ◽  
Martina Dualan ◽  
Elena Javier
Keyword(s):  
Fragile X Syndrome ◽  
Fragile X
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