Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome

SHMT2 Working Group

doi:10.1007/s00401-020-02223-w

Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome

SHMT2 Working Group

Research output: Contribution to journal › Letter › peer-review

Original language	English (US)
Pages (from-to)	971-975
Number of pages	5
Journal	Acta neuropathologica
Volume	140
Issue number	6
DOIs	https://doi.org/10.1007/s00401-020-02223-w
State	Published - Dec 2020

Keywords

Cardiomyopathy
Congenital microcephaly
Mitochondrial one-carbon metabolism
Perisylvian polymicrogyria
SHMT2

ASJC Scopus subject areas

Pathology and Forensic Medicine
Clinical Neurology
Cellular and Molecular Neuroscience

Access to Document

10.1007/s00401-020-02223-w

Cite this

@article{117ddc13508d42c68699f6e55b886e37,

title = "Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome",

keywords = "Cardiomyopathy, Congenital microcephaly, Mitochondrial one-carbon metabolism, Perisylvian polymicrogyria, SHMT2",

author = "{SHMT2 Working Group} and {\`A}ngels Garc{\'i}a-Cazorla and Edgard Verdura and Natalia Juli{\'a}-Palacios and Anderson, {Eric N.} and Leire Goicoechea and Laura Planas-Serra and Enkhtuul Tsogtbaatar and Dsouza, {Nikita R.} and Agatha Schl{\"u}ter and Roser Urreizti and Tarnowski, {Jessica M.} and Gavrilova, {Ralitza H.} and Alfonso Oyarz{\'a}bal and In{\'e}s Medina and Aida Ormaz{\'a}bal and Jordi Muchart and Carretero, {Juan Manuel} and Cristina Jou and {del Toro}, Mireia and Andr{\'e}s Nascimento and Paredes, {Abraham J.} and Delia Yubero and Roser Colom{\'e} and Montserrat Ruiz and Agust{\'i} Rodr{\'i}guez-Palmero and St{\'e}phane Fourcade and Benjamin Cogn{\'e} and Thomas Besnard and Marie Vincent and St{\'e}phane B{\'e}zieau and Folmes, {Clifford D.} and Zimmermann, {Michael T.} and Klee, {Eric W.} and Pandey, {Udai Bhan} and Rafael Artuch and Cousin, {Margot A.} and Aurora Pujol",

note = "Funding Information: We are indebted to the families who participated in this study. We thank CERCA Program/Generalitat de Catalunya for institutional support. We thank Cristina Guilera and Juanjo Mart{\'i}nez for excellent technical assistance at Neurometabolic Diseases Lab. We thank the Mayo Clinic Mitochondrial Disease Center for excellent support. This study was supported by the Centre for Biomedical Research on Rare Diseases (CIBERER) [ACCI14-759], [ACCI19-26], the URDCat program (PERIS SLT002/16/00174), the Fondo de Investigaci{\'o}n Sanitaria FIS PI17/00916 (ISCIII) (co-funded by European Regional Development Fund. ERDF, a way to build Europe), the Hesperia Foundation, and the Secretary for Universities and Research of the Ministry of Business and Knowledge of the Government of Catalonia [2017SGR1206] to AP. AGC and NJP were funded by Fondo de Investigaci{\'o}n Sanitaria (FIS) P118/00111 (Instituto de Salud Carlos III: ISCIII and “Fondo Europeo de desarrollo regional” FEDER). RA was funded by FIS PI17/00109 (ISCIII). EV was funded by grants from the Ministerio de Economia, Industria y Competividad (Juan de la Cierva program FJCI-2016-28811) and Instituto de Salud Carlos III (Sara Borrell program, CD19/00221). Funding Information: We are indebted to the families who participated in this study. We thank CERCA Program/Generalitat de Catalunya for institutional support. We thank Cristina Guilera and Juanjo Mart{\'i}nez for excellent technical assistance at Neurometabolic Diseases Lab. We thank the Mayo Clinic Mitochondrial Disease Center for excellent support. This study was supported by the Centre for Biomedical Research on Rare Diseases (CIBERER) [ACCI14-759], [ACCI19-26], the URDCat program (PERIS SLT002/16/00174), the Fondo de Investigaci{\'o}n Sanitaria FIS PI17/00916 (ISCIII) (co-funded by European Regional Development Fund. ERDF, a way to build Europe), the Hesperia Foundation, and the Secretary for Universities and Research of the Ministry of Business and Knowledge of the Government of Catalonia [2017SGR1206] to AP. AGC and NJP were funded by Fondo de Investigaci{\'o}n Sanitaria (FIS) P118/00111 (Instituto de Salud Carlos III: ISCIII and “Fondo Europeo de desarrollo regional” FEDER). RA was funded by FIS PI17/00109 (ISCIII). EV was funded by grants from the Ministerio de Economia, Industria y Competividad (Juan de la Cierva program FJCI-2016-28811) and Instituto de Salud Carlos III (Sara Borrell program, CD19/00221). SF was funded by the Instituto de Salud Carlos III [Miguel Servet program CPII16/00016, co-funded by European Social Fund. ESF investing in your future]. MR was funded by CIBERER. LPS and AJP were funded by predoctoral grants from the Instituto de Salud Carlos III (PFIS, FI18/00141 and FI18/00253). EK and MC were funded by the Center for Individualized Medicine at Mayo Clinic. ET and CF were funded by a grant from the NIH (HL121079), the Anne Dash Weinman Fund in Cardiovascular Research Honoring Steven J. Lester, and the Nasser Al-Rashid Fund for Research in Cardiovascular Diseases. AP and EWK are members of the Undiagnosed Diseases Network International (UDNI). We are indebted to the “Biobanc de l{\textquoteright}Hospital Infantil Sant Joan de D{\'e}u per a la Investigaci{\'o}” integrated in the Spanish Biobank Network of ISCIII for the sample and data procurement of patient 3. MZ and ND were supported in part by The Linda T. and John A. Mellowes Endowed Innovation and Discovery Fund and the Genomic Sciences and Precision Medicine Center of Medical College of Wisconsin. ",

year = "2020",

month = dec,

doi = "10.1007/s00401-020-02223-w",

language = "English (US)",

volume = "140",

pages = "971--975",

journal = "Acta neuropathologica",

issn = "0001-6322",

publisher = "Springer Verlag",

number = "6",

}

TY - JOUR

T1 - Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome

AU - SHMT2 Working Group

AU - García-Cazorla, Àngels

AU - Verdura, Edgard

AU - Juliá-Palacios, Natalia

AU - Anderson, Eric N.

AU - Goicoechea, Leire

AU - Planas-Serra, Laura

AU - Tsogtbaatar, Enkhtuul

AU - Dsouza, Nikita R.

AU - Schlüter, Agatha

AU - Urreizti, Roser

AU - Tarnowski, Jessica M.

AU - Gavrilova, Ralitza H.

AU - Oyarzábal, Alfonso

AU - Medina, Inés

AU - Ormazábal, Aida

AU - Muchart, Jordi

AU - Carretero, Juan Manuel

AU - Jou, Cristina

AU - del Toro, Mireia

AU - Nascimento, Andrés

AU - Paredes, Abraham J.

AU - Yubero, Delia

AU - Colomé, Roser

AU - Ruiz, Montserrat

AU - Rodríguez-Palmero, Agustí

AU - Fourcade, Stéphane

AU - Cogné, Benjamin

AU - Besnard, Thomas

AU - Vincent, Marie

AU - Bézieau, Stéphane

AU - Folmes, Clifford D.

AU - Zimmermann, Michael T.

AU - Klee, Eric W.

AU - Pandey, Udai Bhan

AU - Artuch, Rafael

AU - Cousin, Margot A.

AU - Pujol, Aurora

N1 - Funding Information: We are indebted to the families who participated in this study. We thank CERCA Program/Generalitat de Catalunya for institutional support. We thank Cristina Guilera and Juanjo Martínez for excellent technical assistance at Neurometabolic Diseases Lab. We thank the Mayo Clinic Mitochondrial Disease Center for excellent support. This study was supported by the Centre for Biomedical Research on Rare Diseases (CIBERER) [ACCI14-759], [ACCI19-26], the URDCat program (PERIS SLT002/16/00174), the Fondo de Investigación Sanitaria FIS PI17/00916 (ISCIII) (co-funded by European Regional Development Fund. ERDF, a way to build Europe), the Hesperia Foundation, and the Secretary for Universities and Research of the Ministry of Business and Knowledge of the Government of Catalonia [2017SGR1206] to AP. AGC and NJP were funded by Fondo de Investigación Sanitaria (FIS) P118/00111 (Instituto de Salud Carlos III: ISCIII and “Fondo Europeo de desarrollo regional” FEDER). RA was funded by FIS PI17/00109 (ISCIII). EV was funded by grants from the Ministerio de Economia, Industria y Competividad (Juan de la Cierva program FJCI-2016-28811) and Instituto de Salud Carlos III (Sara Borrell program, CD19/00221). Funding Information: We are indebted to the families who participated in this study. We thank CERCA Program/Generalitat de Catalunya for institutional support. We thank Cristina Guilera and Juanjo Martínez for excellent technical assistance at Neurometabolic Diseases Lab. We thank the Mayo Clinic Mitochondrial Disease Center for excellent support. This study was supported by the Centre for Biomedical Research on Rare Diseases (CIBERER) [ACCI14-759], [ACCI19-26], the URDCat program (PERIS SLT002/16/00174), the Fondo de Investigación Sanitaria FIS PI17/00916 (ISCIII) (co-funded by European Regional Development Fund. ERDF, a way to build Europe), the Hesperia Foundation, and the Secretary for Universities and Research of the Ministry of Business and Knowledge of the Government of Catalonia [2017SGR1206] to AP. AGC and NJP were funded by Fondo de Investigación Sanitaria (FIS) P118/00111 (Instituto de Salud Carlos III: ISCIII and “Fondo Europeo de desarrollo regional” FEDER). RA was funded by FIS PI17/00109 (ISCIII). EV was funded by grants from the Ministerio de Economia, Industria y Competividad (Juan de la Cierva program FJCI-2016-28811) and Instituto de Salud Carlos III (Sara Borrell program, CD19/00221). SF was funded by the Instituto de Salud Carlos III [Miguel Servet program CPII16/00016, co-funded by European Social Fund. ESF investing in your future]. MR was funded by CIBERER. LPS and AJP were funded by predoctoral grants from the Instituto de Salud Carlos III (PFIS, FI18/00141 and FI18/00253). EK and MC were funded by the Center for Individualized Medicine at Mayo Clinic. ET and CF were funded by a grant from the NIH (HL121079), the Anne Dash Weinman Fund in Cardiovascular Research Honoring Steven J. Lester, and the Nasser Al-Rashid Fund for Research in Cardiovascular Diseases. AP and EWK are members of the Undiagnosed Diseases Network International (UDNI). We are indebted to the “Biobanc de l’Hospital Infantil Sant Joan de Déu per a la Investigació” integrated in the Spanish Biobank Network of ISCIII for the sample and data procurement of patient 3. MZ and ND were supported in part by The Linda T. and John A. Mellowes Endowed Innovation and Discovery Fund and the Genomic Sciences and Precision Medicine Center of Medical College of Wisconsin.

PY - 2020/12

Y1 - 2020/12

KW - Cardiomyopathy

KW - Congenital microcephaly

KW - Mitochondrial one-carbon metabolism

KW - Perisylvian polymicrogyria

KW - SHMT2

UR - http://www.scopus.com/inward/record.url?scp=85092164256&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85092164256&partnerID=8YFLogxK

U2 - 10.1007/s00401-020-02223-w

DO - 10.1007/s00401-020-02223-w

M3 - Letter

C2 - 33015733

AN - SCOPUS:85092164256

SN - 0001-6322

VL - 140

SP - 971

EP - 975

JO - Acta neuropathologica

JF - Acta neuropathologica

IS - 6

ER -

Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Cite this