Two key genes closely implicated with the neuropathological characteristics in Down syndrome: DYRK1A and RCAN1

Joongkyu Park, Yohan Oh, Kwang Chul Chung

Research output: Contribution to journalShort survey

56 Citations (Scopus)

Abstract

The most common genetic disorder Down syndrome (DS) displays various developmental defects including mental retardation, learning and memory deficit, the early onset of Alzheimer's disease (AD), congenital heart disease, and craniofacial abnormalities. Those characteristics result from the extra-genes located in the specific region called 'Down syndrome critical region (DSCR)' in human chromosome 21. In this review, we summarized the recent findings of the DYRK1A and RCAN1 genes, which are located on DSCR and thought to be closely associated with the typical features of DS patients, and their implication to the pathogenesis of neural defects in DS. DYRK1A phosphorylates several transcriptional factors, such as CREB and NFAT, endocytic complex proteins, and AD-linked gene products. Meanwhile, RCAN1 is an endogenous inhibitor of calcineurin A, and its unbalanced activity is thought to cause major neuronal and/or non-neuronal malfunction in DS and AD. Interestingly, they both contribute to the learning and memory deficit, altered synaptic plasticity, impaired cell cycle regulation, and AD-like neuropathology in DS. By understanding their biochemical, functional and physiological roles, we hope to get important molecular basis of DS pathology, which would consequently lead to the basis to develop the possible therapeutic tools for the neural defects in DS.

Original languageEnglish
Pages (from-to)6-15
Number of pages10
JournalBMB Reports
Volume42
Issue number1
DOIs
Publication statusPublished - 2009 Jan 1

Fingerprint

Down Syndrome
Genes
Alzheimer Disease
Defects
Memory Disorders
Data storage equipment
Calcineurin
Pathology
Craniofacial Abnormalities
Chromosomes
Learning
Chromosomes, Human, Pair 21
Plasticity
Inborn Genetic Diseases
Neuronal Plasticity
Congenital Heart Defects
Human Chromosomes
Cells
Intellectual Disability
Heart Diseases

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Molecular Biology

Cite this

@article{d7ee55ab51ae4f3c88f0793cbe5a641e,
title = "Two key genes closely implicated with the neuropathological characteristics in Down syndrome: DYRK1A and RCAN1",
abstract = "The most common genetic disorder Down syndrome (DS) displays various developmental defects including mental retardation, learning and memory deficit, the early onset of Alzheimer's disease (AD), congenital heart disease, and craniofacial abnormalities. Those characteristics result from the extra-genes located in the specific region called 'Down syndrome critical region (DSCR)' in human chromosome 21. In this review, we summarized the recent findings of the DYRK1A and RCAN1 genes, which are located on DSCR and thought to be closely associated with the typical features of DS patients, and their implication to the pathogenesis of neural defects in DS. DYRK1A phosphorylates several transcriptional factors, such as CREB and NFAT, endocytic complex proteins, and AD-linked gene products. Meanwhile, RCAN1 is an endogenous inhibitor of calcineurin A, and its unbalanced activity is thought to cause major neuronal and/or non-neuronal malfunction in DS and AD. Interestingly, they both contribute to the learning and memory deficit, altered synaptic plasticity, impaired cell cycle regulation, and AD-like neuropathology in DS. By understanding their biochemical, functional and physiological roles, we hope to get important molecular basis of DS pathology, which would consequently lead to the basis to develop the possible therapeutic tools for the neural defects in DS.",
author = "Joongkyu Park and Yohan Oh and Chung, {Kwang Chul}",
year = "2009",
month = "1",
day = "1",
doi = "10.5483/BMBRep.2009.42.1.006",
language = "English",
volume = "42",
pages = "6--15",
journal = "BMB Reports",
issn = "1976-6696",
publisher = "The Biochemical Society of the Republic of Korea",
number = "1",

}

Two key genes closely implicated with the neuropathological characteristics in Down syndrome : DYRK1A and RCAN1. / Park, Joongkyu; Oh, Yohan; Chung, Kwang Chul.

In: BMB Reports, Vol. 42, No. 1, 01.01.2009, p. 6-15.

Research output: Contribution to journalShort survey

TY - JOUR

T1 - Two key genes closely implicated with the neuropathological characteristics in Down syndrome

T2 - DYRK1A and RCAN1

AU - Park, Joongkyu

AU - Oh, Yohan

AU - Chung, Kwang Chul

PY - 2009/1/1

Y1 - 2009/1/1

N2 - The most common genetic disorder Down syndrome (DS) displays various developmental defects including mental retardation, learning and memory deficit, the early onset of Alzheimer's disease (AD), congenital heart disease, and craniofacial abnormalities. Those characteristics result from the extra-genes located in the specific region called 'Down syndrome critical region (DSCR)' in human chromosome 21. In this review, we summarized the recent findings of the DYRK1A and RCAN1 genes, which are located on DSCR and thought to be closely associated with the typical features of DS patients, and their implication to the pathogenesis of neural defects in DS. DYRK1A phosphorylates several transcriptional factors, such as CREB and NFAT, endocytic complex proteins, and AD-linked gene products. Meanwhile, RCAN1 is an endogenous inhibitor of calcineurin A, and its unbalanced activity is thought to cause major neuronal and/or non-neuronal malfunction in DS and AD. Interestingly, they both contribute to the learning and memory deficit, altered synaptic plasticity, impaired cell cycle regulation, and AD-like neuropathology in DS. By understanding their biochemical, functional and physiological roles, we hope to get important molecular basis of DS pathology, which would consequently lead to the basis to develop the possible therapeutic tools for the neural defects in DS.

AB - The most common genetic disorder Down syndrome (DS) displays various developmental defects including mental retardation, learning and memory deficit, the early onset of Alzheimer's disease (AD), congenital heart disease, and craniofacial abnormalities. Those characteristics result from the extra-genes located in the specific region called 'Down syndrome critical region (DSCR)' in human chromosome 21. In this review, we summarized the recent findings of the DYRK1A and RCAN1 genes, which are located on DSCR and thought to be closely associated with the typical features of DS patients, and their implication to the pathogenesis of neural defects in DS. DYRK1A phosphorylates several transcriptional factors, such as CREB and NFAT, endocytic complex proteins, and AD-linked gene products. Meanwhile, RCAN1 is an endogenous inhibitor of calcineurin A, and its unbalanced activity is thought to cause major neuronal and/or non-neuronal malfunction in DS and AD. Interestingly, they both contribute to the learning and memory deficit, altered synaptic plasticity, impaired cell cycle regulation, and AD-like neuropathology in DS. By understanding their biochemical, functional and physiological roles, we hope to get important molecular basis of DS pathology, which would consequently lead to the basis to develop the possible therapeutic tools for the neural defects in DS.

UR - http://www.scopus.com/inward/record.url?scp=62449135654&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=62449135654&partnerID=8YFLogxK

U2 - 10.5483/BMBRep.2009.42.1.006

DO - 10.5483/BMBRep.2009.42.1.006

M3 - Short survey

C2 - 19192387

AN - SCOPUS:62449135654

VL - 42

SP - 6

EP - 15

JO - BMB Reports

JF - BMB Reports

SN - 1976-6696

IS - 1

ER -