Potocki-Shaffer syndrome in a child without intellectual disability-The role of PHF21A in cognitive function

2017 ◽  
Vol 173 (3) ◽  
pp. 716-720 ◽  
Author(s):  
Caroline McCool ◽  
Adiaha Spinks-Franklin ◽  
Lenora M. Noroski ◽  
Lorraine Potocki
Keyword(s):  
Intellectual Disability ◽  
Cognitive Function

Microduplication of 3p26.3 in Nonsyndromic Intellectual Disability Indicates an Important Role of CHL1 for Normal Cognitive Function

2013 ◽  
Vol 44 (05) ◽  
pp. 268-271 ◽  
Author(s):  
Moneef Shoukier ◽  
Sigrid Fuchs ◽  
Eva Schwaibold ◽  
Michael Lingen ◽  
Jutta Gärtner ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Cognitive Function ◽  
Normal Cognitive Function

scholarly journals Loss of Ftsj1 perturbs codon-specific translation efficiency in the brain and is associated with X-linked intellectual disability

2021 ◽  
Vol 7 (13) ◽  
pp. eabf3072
Author(s):  
Y. Nagayoshi ◽  
T. Chujo ◽  
S. Hirata ◽  
H. Nakatsuka ◽  
C.-W. Chen ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
State Level ◽  
Memory Deficits ◽  
Ribosome Profiling ◽  
Translation Efficiency ◽  
Trna Modification ◽  
Synaptic Organization ◽  
Transfer Rnas ◽  
The Brain

FtsJ RNA 2′-O-methyltransferase 1 (FTSJ1) gene has been implicated in X-linked intellectual disability (XLID), but the molecular pathogenesis is unknown. We show that Ftsj1 is responsible for 2′-O-methylation of 11 species of cytosolic transfer RNAs (tRNAs) at the anticodon region, and these modifications are abolished in Ftsj1 knockout (KO) mice and XLID patient–derived cells. Loss of 2′-O-methylation in Ftsj1 KO mouse selectively reduced the steady-state level of tRNAPhe in the brain, resulting in a slow decoding at Phe codons. Ribosome profiling showed that translation efficiency is significantly reduced in a subset of genes that need to be efficiently translated to support synaptic organization and functions. Ftsj1 KO mice display immature synaptic morphology and aberrant synaptic plasticity, which are associated with anxiety-like and memory deficits. The data illuminate a fundamental role of tRNA modification in the brain through regulation of translation efficiency and provide mechanistic insights into FTSJ1-related XLID.

scholarly journals Creatine Supplementation and Brain Health

Nutrients ◽  
2021 ◽  
Vol 13 (2) ◽  
pp. 586 ◽  
Author(s):  
Hamilton Roschel ◽  
Bruno Gualano ◽  
Sergej M. Ostojic ◽  
Eric S. Rawson
Keyword(s):  
Traumatic Brain Injury ◽  
Brain Injury ◽  
Cognitive Function ◽  
Cognitive Processing ◽  
Brain Function ◽  
Creatine Supplementation ◽  
Short Review ◽  
Future Research ◽  
Brain Health

There is a robust and compelling body of evidence supporting the ergogenic and therapeutic role of creatine supplementation in muscle. Beyond these well-described effects and mechanisms, there is literature to suggest that creatine may also be beneficial to brain health (e.g., cognitive processing, brain function, and recovery from trauma). This is a growing field of research, and the purpose of this short review is to provide an update on the effects of creatine supplementation on brain health in humans. There is a potential for creatine supplementation to improve cognitive processing, especially in conditions characterized by brain creatine deficits, which could be induced by acute stressors (e.g., exercise, sleep deprivation) or chronic, pathologic conditions (e.g., creatine synthesis enzyme deficiencies, mild traumatic brain injury, aging, Alzheimer’s disease, depression). Despite this, the optimal creatine protocol able to increase brain creatine levels is still to be determined. Similarly, supplementation studies concomitantly assessing brain creatine and cognitive function are needed. Collectively, data available are promising and future research in the area is warranted.

Early Child–Parent Relationship Quality and Cognitive Function in Older Rural Chinese Adults: The Mediating Role of Educational Attainment

2021 ◽  
pp. 089826432199656
Author(s):  
Changmin Peng ◽  
Jeffrey A. Burr ◽  
Dong Yang ◽  
Nan Lu
Keyword(s):  
Older Adults ◽  
Cognitive Function ◽  
Educational Attainment ◽  
Relationship Quality ◽  
Later Life ◽  
Life Course Perspective ◽  
Early Child ◽  
Mediating Role ◽  
Parent Relationship

Objectives: Framed within a life course perspective and cognitive reserve theory, this study examined the mediating role of educational attainment for the association between child–parent relationships during childhood and cognitive function among older adults in rural China. Methods: Data were obtained from three waves of the China Health and Retirement Longitudinal Study ( N = 9809). We employed latent growth curve modeling to test the association among early child–parent relationship quality, educational attainment, and cognitive function in later life. Results: Early child–mother relationship quality was associated with the level and change in cognitive function. Early child–father relationship quality was only related to baseline cognitive function. Educational attainment mediated the relationship between early child–parent relationship quality with mothers and fathers and cognitive function. Discussion: Parental relationship experience in childhood was one distal factor related to cognitive function among older adults. The findings supported the long-term impacts of childhood conditions for later life health consequences.

399 COMPARISON OF COGNITIVE FUNCTION AND QUALITY OF LIFE IN WOMEN WITH HYPOPITUITARISM: ROLE OF ANDROGENS

2005 ◽  
Vol 53 (1) ◽  
pp. S148.3-S148
Author(s):  
E. Zuckerbraun ◽  
M. Garcia ◽  
B. Tran ◽  
Bhasin S. T.C. Friedman
Keyword(s):  
Quality Of Life ◽  
Cognitive Function

Beyond motor recovery after stroke: The role of hand robotic rehabilitation plus virtual reality in improving cognitive function

2021 ◽  
Vol 92 ◽  
pp. 11-16
Author(s):  
Michele Torrisi ◽  
Maria Grazia Maggio ◽  
Maria Cristina De Cola ◽  
Caterina Zichittella ◽  
Casella Carmela ◽  
...  
Keyword(s):  
Virtual Reality ◽  
Cognitive Function ◽  
Motor Recovery ◽  
Robotic Rehabilitation
Sign in / Sign up

Export Citation Format

Share Document