Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes

Abstract KPTN-related disorder is an autosomal recessive disorder associated with germline variants in KPTN (previously known as kaptin), a component of the mTOR regulatory complex KICSTOR. To gain further insights into the pathogenesis of KPTN-related disorder, we analysed mouse knockout and human...

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Published inBrain (London, England : 1878) Vol. 146; no. 11; pp. 4766 - 4783
Main Authors Levitin, Maria O, Rawlins, Lettie E, Sanchez-Andrade, Gabriela, Arshad, Osama A, Collins, Stephan C, Sawiak, Stephen J, Iffland, Phillip H, Andersson, Malin H L, Bupp, Caleb, Cambridge, Emma L, Coomber, Eve L, Ellis, Ian, Herkert, Johanna C, Ironfield, Holly, Jory, Logan, Kretz, Perrine F, Kant, Sarina G, Neaverson, Alexandra, Nibbeling, Esther, Rowley, Christine, Relton, Emily, Sanderson, Mark, Scott, Ethan M, Stewart, Helen, Shuen, Andrew Y, Schreiber, John, Tuck, Liz, Tonks, James, Terkelsen, Thorkild, van Ravenswaaij-Arts, Conny, Vasudevan, Pradeep, Wenger, Olivia, Wright, Michael, Day, Andrew, Hunter, Adam, Patel, Minal, Lelliott, Christopher J, Crino, Peter B, Yalcin, Binnaz, Crosby, Andrew H, Baple, Emma L, Logan, Darren W, Hurles, Matthew E, Gerety, Sebastian S
Format Journal Article
LanguageEnglish
Published US Oxford University Press 02.11.2023
Subjects
Original
mTOR
macrocephaly
animal model
neurodevelopmental disorders
iPSC
recessive
IPSC
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Abstract Abstract KPTN-related disorder is an autosomal recessive disorder associated with germline variants in KPTN (previously known as kaptin), a component of the mTOR regulatory complex KICSTOR. To gain further insights into the pathogenesis of KPTN-related disorder, we analysed mouse knockout and human stem cell KPTN loss-of-function models. Kptn −/− mice display many of the key KPTN-related disorder phenotypes, including brain overgrowth, behavioural abnormalities, and cognitive deficits. By assessment of affected individuals, we have identified widespread cognitive deficits (n = 6) and postnatal onset of brain overgrowth (n = 19). By analysing head size data from their parents (n = 24), we have identified a previously unrecognized KPTN dosage-sensitivity, resulting in increased head circumference in heterozygous carriers of pathogenic KPTN variants. Molecular and structural analysis of Kptn−/− mice revealed pathological changes, including differences in brain size, shape and cell numbers primarily due to abnormal postnatal brain development. Both the mouse and differentiated induced pluripotent stem cell models of the disorder display transcriptional and biochemical evidence for altered mTOR pathway signalling, supporting the role of KPTN in regulating mTORC1. By treatment in our KPTN mouse model, we found that the increased mTOR signalling downstream of KPTN is rapamycin sensitive, highlighting possible therapeutic avenues with currently available mTOR inhibitors. These findings place KPTN-related disorder in the broader group of mTORC1-related disorders affecting brain structure, cognitive function and network integrity. Levitin et al. model KPTN-related disorder in knockout mice and in human cells. Consistent with findings in patients, the mouse model shows cognitive and behavioural changes, as well as significant brain overgrowth. Reversible mTOR pathway disruption is evident in both models, suggesting therapeutic potential of mTOR inhibitors.
AbstractList KPTN-related disorder is an autosomal recessive disorder associated with germline variants in KPTN (previously known as kaptin), a component of the mTOR regulatory complex KICSTOR. To gain further insights into the pathogenesis of KPTN-related disorder, we analysed mouse knockout and human stem cell KPTN loss-of-function models. Kptn-/- mice display many of the key KPTN-related disorder phenotypes, including brain overgrowth, behavioural abnormalities, and cognitive deficits. By assessment of affected individuals, we have identified widespread cognitive deficits (n=6) and postnatal onset of brain overgrowth (n=19). By analysing head size data from their parents (n=24), we have identified a previously unrecognised KPTN dosage-sensitivity, resulting in increased head circumference in heterozygous carriers of pathogenic KPTN variants. Molecular and structural analysis of Kptn-/- mice revealed pathological changes, including differences in brain size, shape, and cell numbers primarily due to abnormal postnatal brain development. Both the mouse and differentiated iPSC models of the disorder display transcriptional and biochemical evidence for altered mTOR pathway signalling, supporting the role of KPTN in regulating mTORC1. By treatment in our KPTN mouse model, we find that the increased mTOR signalling downstream of KPTN is rapamycin sensitive, highlighting possible therapeutic avenues with currently available mTOR inhibitors. These findings place KPTN-related disorder in the broader group of mTORC1 related disorders affecting brain structure, cognitive function, and network integrity.
Abstract KPTN-related disorder is an autosomal recessive disorder associated with germline variants in KPTN (previously known as kaptin), a component of the mTOR regulatory complex KICSTOR. To gain further insights into the pathogenesis of KPTN-related disorder, we analysed mouse knockout and human stem cell KPTN loss-of-function models. Kptn −/− mice display many of the key KPTN-related disorder phenotypes, including brain overgrowth, behavioural abnormalities, and cognitive deficits. By assessment of affected individuals, we have identified widespread cognitive deficits (n = 6) and postnatal onset of brain overgrowth (n = 19). By analysing head size data from their parents (n = 24), we have identified a previously unrecognized KPTN dosage-sensitivity, resulting in increased head circumference in heterozygous carriers of pathogenic KPTN variants. Molecular and structural analysis of Kptn−/− mice revealed pathological changes, including differences in brain size, shape and cell numbers primarily due to abnormal postnatal brain development. Both the mouse and differentiated induced pluripotent stem cell models of the disorder display transcriptional and biochemical evidence for altered mTOR pathway signalling, supporting the role of KPTN in regulating mTORC1. By treatment in our KPTN mouse model, we found that the increased mTOR signalling downstream of KPTN is rapamycin sensitive, highlighting possible therapeutic avenues with currently available mTOR inhibitors. These findings place KPTN-related disorder in the broader group of mTORC1-related disorders affecting brain structure, cognitive function and network integrity.
KPTN-related disorder is an autosomal recessive disorder associated with germline variants in KPTN (previously known as kaptin), a component of the mTOR regulatory complex KICSTOR. To gain further insights into the pathogenesis of KPTN-related disorder, we analysed mouse knockout and human stem cell KPTN loss-of-function models. Kptn -/- mice display many of the key KPTN-related disorder phenotypes, including brain overgrowth, behavioural abnormalities, and cognitive deficits. By assessment of affected individuals, we have identified widespread cognitive deficits (n = 6) and postnatal onset of brain overgrowth (n = 19). By analysing head size data from their parents (n = 24), we have identified a previously unrecognized KPTN dosage-sensitivity, resulting in increased head circumference in heterozygous carriers of pathogenic KPTN variants. Molecular and structural analysis of Kptn-/- mice revealed pathological changes, including differences in brain size, shape and cell numbers primarily due to abnormal postnatal brain development. Both the mouse and differentiated induced pluripotent stem cell models of the disorder display transcriptional and biochemical evidence for altered mTOR pathway signalling, supporting the role of KPTN in regulating mTORC1. By treatment in our KPTN mouse model, we found that the increased mTOR signalling downstream of KPTN is rapamycin sensitive, highlighting possible therapeutic avenues with currently available mTOR inhibitors. These findings place KPTN-related disorder in the broader group of mTORC1-related disorders affecting brain structure, cognitive function and network integrity.
Abstract KPTN-related disorder is an autosomal recessive disorder associated with germline variants in KPTN (previously known as kaptin), a component of the mTOR regulatory complex KICSTOR. To gain further insights into the pathogenesis of KPTN-related disorder, we analysed mouse knockout and human stem cell KPTN loss-of-function models. Kptn −/− mice display many of the key KPTN-related disorder phenotypes, including brain overgrowth, behavioural abnormalities, and cognitive deficits. By assessment of affected individuals, we have identified widespread cognitive deficits (n = 6) and postnatal onset of brain overgrowth (n = 19). By analysing head size data from their parents (n = 24), we have identified a previously unrecognized KPTN dosage-sensitivity, resulting in increased head circumference in heterozygous carriers of pathogenic KPTN variants. Molecular and structural analysis of Kptn−/− mice revealed pathological changes, including differences in brain size, shape and cell numbers primarily due to abnormal postnatal brain development. Both the mouse and differentiated induced pluripotent stem cell models of the disorder display transcriptional and biochemical evidence for altered mTOR pathway signalling, supporting the role of KPTN in regulating mTORC1. By treatment in our KPTN mouse model, we found that the increased mTOR signalling downstream of KPTN is rapamycin sensitive, highlighting possible therapeutic avenues with currently available mTOR inhibitors. These findings place KPTN-related disorder in the broader group of mTORC1-related disorders affecting brain structure, cognitive function and network integrity. Levitin et al. model KPTN-related disorder in knockout mice and in human cells. Consistent with findings in patients, the mouse model shows cognitive and behavioural changes, as well as significant brain overgrowth. Reversible mTOR pathway disruption is evident in both models, suggesting therapeutic potential of mTOR inhibitors.
KPTN -related disorder is an autosomal recessive disorder associated with germline variants in KPTN (previously known as kaptin), a component of the mTOR regulatory complex KICSTOR. To gain further insights into the pathogenesis of KPTN -related disorder, we analysed mouse knockout and human stem cell KPTN loss-of-function models. Kptn −/− mice display many of the key KPTN -related disorder phenotypes, including brain overgrowth, behavioural abnormalities, and cognitive deficits. By assessment of affected individuals, we have identified widespread cognitive deficits ( n = 6) and postnatal onset of brain overgrowth ( n = 19). By analysing head size data from their parents ( n = 24), we have identified a previously unrecognized KPTN dosage-sensitivity, resulting in increased head circumference in heterozygous carriers of pathogenic KPTN variants. Molecular and structural analysis of Kptn −/− mice revealed pathological changes, including differences in brain size, shape and cell numbers primarily due to abnormal postnatal brain development. Both the mouse and differentiated induced pluripotent stem cell models of the disorder display transcriptional and biochemical evidence for altered mTOR pathway signalling, supporting the role of KPTN in regulating mTORC1. By treatment in our KPTN mouse model, we found that the increased mTOR signalling downstream of KPTN is rapamycin sensitive, highlighting possible therapeutic avenues with currently available mTOR inhibitors. These findings place KPTN -related disorder in the broader group of mTORC1-related disorders affecting brain structure, cognitive function and network integrity. Levitin et al. model KPTN -related disorder in knockout mice and in human cells. Consistent with findings in patients, the mouse model shows cognitive and behavioural changes, as well as significant brain overgrowth. Reversible mTOR pathway disruption is evident in both models, suggesting therapeutic potential of mTOR inhibitors.
Author Wenger, Olivia
Stewart, Helen
Bupp, Caleb
Herkert, Johanna C
Nibbeling, Esther
Tonks, James
Iffland, Phillip H
Andersson, Malin H L
Logan, Darren W
Scott, Ethan M
Lelliott, Christopher J
Ironfield, Holly
Sanderson, Mark
van Ravenswaaij-Arts, Conny
Crosby, Andrew H
Yalcin, Binnaz
Tuck, Liz
Jory, Logan
Crino, Peter B
Neaverson, Alexandra
Shuen, Andrew Y
Kretz, Perrine F
Arshad, Osama A
Vasudevan, Pradeep
Hunter, Adam
Ellis, Ian
Collins, Stephan C
Cambridge, Emma L
Terkelsen, Thorkild
Hurles, Matthew E
Kant, Sarina G
Relton, Emily
Baple, Emma L
Coomber, Eve L
Day, Andrew
Patel, Minal
Schreiber, John
Rawlins, Lettie E
Sawiak, Stephen J
Rowley, Christine
Sanchez-Andrade, Gabriela
Wright, Michael
Levitin, Maria O
Gerety, Sebastian S
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ID FETCH-LOGICAL-c421t-cfb8ff461b684c7edde1cb20edb298bc12e8912160c7bd7a0f6384dbb9ec49d83
IEDL.DBID TOX
ISSN 0006-8950
IngestDate Tue Sep 17 21:29:28 EDT 2024
Fri Aug 16 23:11:23 EDT 2024
Thu Sep 12 16:33:37 EDT 2024
Sat Sep 28 08:10:34 EDT 2024
Wed Aug 28 03:15:05 EDT 2024
IsDoiOpenAccess true
IsOpenAccess true
IsPeerReviewed true
IsScholarly true
Issue 11
Keywords mTOR
macrocephaly
animal model
neurodevelopmental disorders
iPSC
recessive
IPSC
Language English
License This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
The Author(s) 2023. Published by Oxford University Press on behalf of the Guarantors of Brain.
LinkModel DirectLink
MergedId FETCHMERGED-LOGICAL-c421t-cfb8ff461b684c7edde1cb20edb298bc12e8912160c7bd7a0f6384dbb9ec49d83
Notes ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
These authors contributed equally to this work.
ORCID 0000-0003-4255-0396
0000-0002-1924-6807
0000-0002-6126-5040
0000-0002-6764-253X
0000-0003-3667-9054
0000-0002-6637-3411
OpenAccessLink https://dx.doi.org/10.1093/brain/awad231
PMID 37437211
PQID 2836877926
PQPubID 23479
PageCount 18
ParticipantIDs pubmedcentral_primary_oai_pubmedcentral_nih_gov_10629792
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PublicationDate 2023-11-02
PublicationDateYYYYMMDD 2023-11-02
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  year: 2023
  text: 2023-11-02
  day: 02
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PublicationTitle Brain (London, England : 1878)
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Publisher Oxford University Press
Publisher_xml – name: Oxford University Press
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Snippet Abstract KPTN-related disorder is an autosomal recessive disorder associated with germline variants in KPTN (previously known as kaptin), a component of the...
KPTN-related disorder is an autosomal recessive disorder associated with germline variants in KPTN (previously known as kaptin), a component of the mTOR...
KPTN -related disorder is an autosomal recessive disorder associated with germline variants in KPTN (previously known as kaptin), a component of the mTOR...
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Title Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes
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