• Je něco špatně v tomto záznamu ?

Ntrk1 mutation co-segregating with bipolar disorder and inherited kidney disease in a multiplex family causes defects in neuronal growth and depression-like behavior in mice

K. Nakajima, A. Miranda, DW. Craig, T. Shekhtman, S. Kmoch, A. Bleyer, S. Szelinger, T. Kato, JR. Kelsoe

. 2020 ; 10 (1) : 407. [pub] 20201124

Jazyk angličtina Země Spojené státy americké

Typ dokumentu časopisecké články, Research Support, N.I.H., Extramural, práce podpořená grantem

Perzistentní odkaz   https://www.medvik.cz/link/bmc21019800

Grantová podpora
18H05435 MEXT | Japan Society for the Promotion of Science (JSPS) - International
19km0405208h000 Japan Agency for Medical Research and Development (AMED) - International
MH094483 U.S. Department of Health & Human Services | NIH | National Institute of Mental Health (NIMH) - International
R01 MH094483 NIMH NIH HHS - United States
T32 GM008666 NIGMS NIH HHS - United States
19dm0207074h0001 Japan Agency for Medical Research and Development (AMED) - International
17H01573 MEXT | Japan Society for the Promotion of Science (JSPS) - International
NV17-29786A MZ0 CEP - Centrální evidence projektů

Previously, we reported a family in which bipolar disorder (BD) co-segregates with a Mendelian kidney disorder linked to 1q22. The causative renal gene was later identified as MUC1. Genome-wide linkage analysis of BD in the family yielded a peak at 1q22 that encompassed the NTRK1 and MUC1 genes. NTRK1 codes for TrkA (Tropomyosin-related kinase A) which is essential for development of the cholinergic nervous system. Whole genome sequencing of the proband identified a damaging missense mutation, E492K, in NTRK1. Induced pluripotent stem cells were generated from family members, and then differentiated to neural stem cells (NSCs). E492K NSCs had reduced neurite outgrowth. A conditional knock-in mouse line, harboring the point mutation in the brain, showed depression-like behavior in the tail suspension test following challenge by physostigmine, a cholinesterase inhibitor. These results are consistent with the cholinergic hypothesis of depression. They imply that the NTRK1 E492K mutation, impairs cholinergic neurotransmission, and may convey susceptibility to bipolar disorder.

Citace poskytuje Crossref.org

000      
00000naa a2200000 a 4500
001      
bmc21019800
003      
CZ-PrNML
005      
20210830101414.0
007      
ta
008      
210728s2020 xxu f 000 0|eng||
009      
AR
024    7_
$a 10.1038/s41398-020-01087-8 $2 doi
035    __
$a (PubMed)33235206
040    __
$a ABA008 $b cze $d ABA008 $e AACR2
041    0_
$a eng
044    __
$a xxu
100    1_
$a Nakajima, Kazuo $u Laboratory for Molecular Dynamics of Mental Disorders, RIKEN Center for Brain Science, Saitama, Japan
245    10
$a Ntrk1 mutation co-segregating with bipolar disorder and inherited kidney disease in a multiplex family causes defects in neuronal growth and depression-like behavior in mice / $c K. Nakajima, A. Miranda, DW. Craig, T. Shekhtman, S. Kmoch, A. Bleyer, S. Szelinger, T. Kato, JR. Kelsoe
520    9_
$a Previously, we reported a family in which bipolar disorder (BD) co-segregates with a Mendelian kidney disorder linked to 1q22. The causative renal gene was later identified as MUC1. Genome-wide linkage analysis of BD in the family yielded a peak at 1q22 that encompassed the NTRK1 and MUC1 genes. NTRK1 codes for TrkA (Tropomyosin-related kinase A) which is essential for development of the cholinergic nervous system. Whole genome sequencing of the proband identified a damaging missense mutation, E492K, in NTRK1. Induced pluripotent stem cells were generated from family members, and then differentiated to neural stem cells (NSCs). E492K NSCs had reduced neurite outgrowth. A conditional knock-in mouse line, harboring the point mutation in the brain, showed depression-like behavior in the tail suspension test following challenge by physostigmine, a cholinesterase inhibitor. These results are consistent with the cholinergic hypothesis of depression. They imply that the NTRK1 E492K mutation, impairs cholinergic neurotransmission, and may convey susceptibility to bipolar disorder.
650    _2
$a zvířata $7 D000818
650    12
$a bipolární porucha $x genetika $7 D001714
650    _2
$a deprese $7 D003863
650    12
$a nemoci ledvin $7 D007674
650    _2
$a myši $7 D051379
650    _2
$a mutace $7 D009154
650    12
$a receptor trkA $x genetika $7 D020917
655    _2
$a časopisecké články $7 D016428
655    _2
$a Research Support, N.I.H., Extramural $7 D052061
655    _2
$a práce podpořená grantem $7 D013485
700    1_
$a Miranda, Alannah $u Department of Psychiatry, University of California San Diego, San Diego, USA
700    1_
$a Craig, David W $u Department of Genetics, University of Southern California, Los Angeles, USA
700    1_
$a Shekhtman, Tatyana $u Department of Psychiatry, University of California San Diego, San Diego, USA
700    1_
$a Kmoch, Stanislav $u Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czechia
700    1_
$a Bleyer, Anthony $u Section on Nephrology, Department of Internal Medicine, Wake Forest School of Medicine, Winston-Salem, NC, 27157, USA
700    1_
$a Szelinger, Szabolcs $u Neurogenomics Division, Translational Genomics Research Institute, Arizona, USA
700    1_
$a Kato, Tadafumi $u Laboratory for Molecular Dynamics of Mental Disorders, RIKEN Center for Brain Science, Saitama, Japan. tadafumi.kato@juntendo.ac.jp $u Department of Psychiatry, Juntendo University, Tokyo, Japan. tadafumi.kato@juntendo.ac.jp
700    1_
$a Kelsoe, John R $u Department of Psychiatry, University of California San Diego, San Diego, USA. jkelsoe@ucsd.edu $u Institute for Genomic Medicine, University of California San Diego, San Diego, USA. jkelsoe@ucsd.edu
773    0_
$w MED00177206 $t Translational psychiatry $x 2158-3188 $g Roč. 10, č. 1 (2020), s. 407
856    41
$u https://pubmed.ncbi.nlm.nih.gov/33235206 $y Pubmed
910    __
$a ABA008 $b sig $c sign $y p $z 0
990    __
$a 20210728 $b ABA008
991    __
$a 20210830101414 $b ABA008
999    __
$a ok $b bmc $g 1690584 $s 1140246
BAS    __
$a 3
BAS    __
$a PreBMC
BMC    __
$a 2020 $b 10 $c 1 $d 407 $e 20201124 $i 2158-3188 $m Translational psychiatry $n Transl Psychiatr $x MED00177206
GRA    __
$a 18H05435 $p MEXT | Japan Society for the Promotion of Science (JSPS) $2 International
GRA    __
$a 19km0405208h000 $p Japan Agency for Medical Research and Development (AMED) $2 International
GRA    __
$a MH094483 $p U.S. Department of Health & Human Services | NIH | National Institute of Mental Health (NIMH) $2 International
GRA    __
$a R01 MH094483 $p NIMH NIH HHS $2 United States
GRA    __
$a T32 GM008666 $p NIGMS NIH HHS $2 United States
GRA    __
$a 19dm0207074h0001 $p Japan Agency for Medical Research and Development (AMED) $2 International
GRA    __
$a 17H01573 $p MEXT | Japan Society for the Promotion of Science (JSPS) $2 International
GRA    __
$a NV17-29786A $p MZ0
LZP    __
$a Pubmed-20210728

Najít záznam

Citační ukazatele

    Možnosti archivace