Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy
Deep sequencing identifies somatic activating mutations of MTOR in affected brain regions of FCDII patients that are sufficient to cause neuronal migration defects and epileptic seizures in mice. Focal cortical dysplasia type II (FCDII) is a sporadic developmental malformation of the cerebral cortex...
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| Published in | Nature medicine Vol. 21; no. 4; pp. 395 - 400 |
|---|---|
| Main Authors | , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
New York
Nature Publishing Group US
01.04.2015
Nature Publishing Group |
| Subjects | |
| Online Access | Get full text |
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| Abstract | Deep sequencing identifies somatic activating mutations of MTOR in affected brain regions of FCDII patients that are sufficient to cause neuronal migration defects and epileptic seizures in mice.
Focal cortical dysplasia type II (FCDII) is a sporadic developmental malformation of the cerebral cortex characterized by dysmorphic neurons, dyslamination and medically refractory epilepsy
1
,
2
. It has been hypothesized that FCD is caused by somatic mutations in affected regions
3
,
4
. Here, we used deep whole-exome sequencing (read depth, 412–668×) validated by site-specific amplicon sequencing (100–347,499×) in paired brain-blood DNA from four subjects with FCDII and uncovered a
de novo
brain somatic mutation, mechanistic target of rapamycin (
MTOR)
c.7280T>C (p.Leu2427Pro) in two subjects. Deep sequencing of the
MTOR
gene in an additional 73 subjects with FCDII using hybrid capture and PCR amplicon sequencing identified eight different somatic missense mutations found in multiple brain tissue samples of ten subjects. The identified mutations accounted for 15.6% of all subjects with FCDII studied (12 of 77). The identified mutations induced the hyperactivation of mTOR kinase. Focal cortical expression of mutant
MTOR
by
in utero
electroporation in mice was sufficient to disrupt neuronal migration and cause spontaneous seizures and cytomegalic neurons. Inhibition of mTOR with rapamycin suppressed cytomegalic neurons and epileptic seizures. This study provides, to our knowledge, the first evidence that brain somatic activating mutations in
MTOR
cause FCD and identifies mTOR as a treatment target for intractable epilepsy in FCD. |
|---|---|
| AbstractList | Focal cortical dysplasia type II (FCDII) is a sporadic developmental malformation of the cerebral cortex characterized by dysmorphic neurons, dyslamination and medically refractory epilepsy. It has been hypothesized that FCD is caused by somatic mutations in affected regions. Here, we used deep whole-exome sequencing (read depth, 412-668) validated by site-specific amplicon sequencing (100-347,499) in paired brain-blood DNA from four subjects with FCDII and uncovered a de novo brain somatic mutation, mechanistic target of rapamycin (MTOR) c.7280T>C (p.Leu2427Pro) in two subjects. Deep sequencing of the MTOR gene in an additional 73 subjects with FCDII using hybrid capture and PCR amplicon sequencing identified eight different somatic missense mutations found in multiple brain tissue samples of ten subjects. The identified mutations accounted for 15.6% of all subjects with FCDII studied (12 of 77). The identified mutations induced the hyperactivation of mTOR kinase. Focal cortical expression of mutant MTOR by in utero electroporation in mice was sufficient to disrupt neuronal migration and cause spontaneous seizures and cytomegalic neurons. Inhibition of mTOR with rapamycin suppressed cytomegalic neurons and epileptic seizures. This study provides, to our knowledge, the first evidence that brain somatic activating mutations in MTOR cause FCD and identifies mTOR as a treatment target for intractable epilepsy in FCD. Focal cortical dysplasia type II (FCDII) is a sporadic developmental malformation of the cerebral cortex characterized by dysmorphic neurons, dyslamination and medically refractory epilepsy (1,2). It has been hypothesized that FCD is caused by somatic mutations in affected regions (3,4). Here, we used deep whole-exome sequencing (read depth, 412-668x) validated by site-specific amplicon sequencing (100-347,499x) in paired brain-blood DNA from four subjects with FCDII and uncovered a de novo brain somatic mutation, mechanistic target of rapamycin (MTOR) c.7280T>C (p.Leu2427Pro) in two subjects. Deep sequencing of the MTOR gene in an additional 73 subjects with FCDII using hybrid capture and PCR amplicon sequencing identified eight different somatic missense mutations found in multiple brain tissue samples of ten subjects. The identified mutations accounted for 15.6% of all subjects with FCDII studied (12 of 77). The identified mutations induced the hyperactivation of mTOR kinase. Focal cortical expression of mutant MTOR by in utero electroporation in mice was sufficient to disrupt neuronal migration and cause spontaneous seizures and cytomegalic neurons. Inhibition of mTOR with rapamycin suppressed cytomegalic neurons and epileptic seizures. This study provides, to our knowledge, the first evidence that brain somatic activating mutations in MTOR cause FCD and identifies mTOR as a treatment target for intractable epilepsy in FCD. Focal cortical dysplasia type II (FCDII) is a sporadic developmental malformation of the cerebral cortex characterized by dysmorphic neurons, dyslamination and medically refractory epilepsy. It has been hypothesized that FCD is caused by somatic mutations in affected regions. Here, we used deep whole-exome sequencing (read depth, 412-668×) validated by site-specific amplicon sequencing (100-347,499×) in paired brain-blood DNA from four subjects with FCDII and uncovered a de novo brain somatic mutation, mechanistic target of rapamycin (MTOR) c.7280T>C (p.Leu2427Pro) in two subjects. Deep sequencing of the MTOR gene in an additional 73 subjects with FCDII using hybrid capture and PCR amplicon sequencing identified eight different somatic missense mutations found in multiple brain tissue samples of ten subjects. The identified mutations accounted for 15.6% of all subjects with FCDII studied (12 of 77). The identified mutations induced the hyperactivation of mTOR kinase. Focal cortical expression of mutant MTOR by in utero electroporation in mice was sufficient to disrupt neuronal migration and cause spontaneous seizures and cytomegalic neurons. Inhibition of mTOR with rapamycin suppressed cytomegalic neurons and epileptic seizures. This study provides, to our knowledge, the first evidence that brain somatic activating mutations in MTOR cause FCD and identifies mTOR as a treatment target for intractable epilepsy in FCD. Deep sequencing identifies somatic activating mutations of MTOR in affected brain regions of FCDII patients that are sufficient to cause neuronal migration defects and epileptic seizures in mice. Focal cortical dysplasia type II (FCDII) is a sporadic developmental malformation of the cerebral cortex characterized by dysmorphic neurons, dyslamination and medically refractory epilepsy 1 , 2 . It has been hypothesized that FCD is caused by somatic mutations in affected regions 3 , 4 . Here, we used deep whole-exome sequencing (read depth, 412–668×) validated by site-specific amplicon sequencing (100–347,499×) in paired brain-blood DNA from four subjects with FCDII and uncovered a de novo brain somatic mutation, mechanistic target of rapamycin ( MTOR) c.7280T>C (p.Leu2427Pro) in two subjects. Deep sequencing of the MTOR gene in an additional 73 subjects with FCDII using hybrid capture and PCR amplicon sequencing identified eight different somatic missense mutations found in multiple brain tissue samples of ten subjects. The identified mutations accounted for 15.6% of all subjects with FCDII studied (12 of 77). The identified mutations induced the hyperactivation of mTOR kinase. Focal cortical expression of mutant MTOR by in utero electroporation in mice was sufficient to disrupt neuronal migration and cause spontaneous seizures and cytomegalic neurons. Inhibition of mTOR with rapamycin suppressed cytomegalic neurons and epileptic seizures. This study provides, to our knowledge, the first evidence that brain somatic activating mutations in MTOR cause FCD and identifies mTOR as a treatment target for intractable epilepsy in FCD. Focal cortical dysplasia type II (FCDII) is a sporadic developmental malformation of the cerebral cortex characterized by dysmorphic neurons, dyslamination and medically refractory epilepsy1, 2. It has been hypothesized that FCD is caused by somatic mutations in affected regions3, 4. Here, we used deep whole-exome sequencing (read depth, 412-668×) validated by site-specific amplicon sequencing (100-347,499×) in paired brain-blood DNA from four subjects with FCDII and uncovered a de novo brain somatic mutation, mechanistic target of rapamycin (MTOR) c.7280T>C (p.Leu2427Pro) in two subjects. Deep sequencing of the MTOR gene in an additional 73 subjects with FCDII using hybrid capture and PCR amplicon sequencing identified eight different somatic missense mutations found in multiple brain tissue samples of ten subjects. The identified mutations accounted for 15.6% of all subjects with FCDII studied (12 of 77). The identified mutations induced the hyperactivation of mTOR kinase. Focal cortical expression of mutant MTOR by in utero electroporation in mice was sufficient to disrupt neuronal migration and cause spontaneous seizures and cytomegalic neurons. Inhibition of mTOR with rapamycin suppressed cytomegalic neurons and epileptic seizures. This study provides, to our knowledge, the first evidence that brain somatic activating mutations in MTOR cause FCD and identifies mTOR as a treatment target for intractable epilepsy in FCD. |
| Audience | Academic |
| Author | Cho, Young-Wook Kim, Daesoo Lim, Jae Seok Kim, Junho Kim, Dong-Seok Lee, Jeong Ho Park, Eun Kyung Park, Ah Hyung Kang, Seok-Gu Rhee, Hwanseok Kim, Jeong A Kang, Hoon-Chul Kim, Ho Min Kim, Se Hoon Kim, Heung Dong Kim, Sangwoo Kim, Woo-il |
| Author_xml | – sequence: 1 givenname: Jae Seok surname: Lim fullname: Lim, Jae Seok organization: Graduate School of Medical Science and Engineering, KAIST – sequence: 2 givenname: Woo-il surname: Kim fullname: Kim, Woo-il organization: Graduate School of Medical Science and Engineering, KAIST – sequence: 3 givenname: Hoon-Chul surname: Kang fullname: Kang, Hoon-Chul organization: Division of Pediatric Neurology, Department of Pediatrics, Pediatric Epilepsy Clinics, Severance Children's Hospital, Epilepsy Research Institute, Yonsei University College of Medicine – sequence: 4 givenname: Se Hoon orcidid: 0000-0001-7516-7372 surname: Kim fullname: Kim, Se Hoon organization: Department of Pathology, Brain Korea 21 project for medical science, Yonsei University College of Medicine – sequence: 5 givenname: Ah Hyung surname: Park fullname: Park, Ah Hyung organization: Department of Biological Sciences, KAIST – sequence: 6 givenname: Eun Kyung surname: Park fullname: Park, Eun Kyung organization: Epilepsy Research Institute, Yonsei University College of Medicine, Department of Neurosurgery, Pediatric Epilepsy Clinics, Brain Korea 21 project for medical science, Severance Children's Hospital, Yonsei University College of Medicine – sequence: 7 givenname: Young-Wook surname: Cho fullname: Cho, Young-Wook organization: Korea Basic Science Institute, Chuncheon Center, Chuncheon-si – sequence: 8 givenname: Sangwoo surname: Kim fullname: Kim, Sangwoo organization: Severance Biomedical Science Institute, Yonsei University College of Medicine – sequence: 9 givenname: Ho Min surname: Kim fullname: Kim, Ho Min organization: Graduate School of Medical Science and Engineering, KAIST – sequence: 10 givenname: Jeong A surname: Kim fullname: Kim, Jeong A organization: Division of Pediatric Neurology, Department of Pediatrics, Pediatric Epilepsy Clinics, Severance Children's Hospital, Epilepsy Research Institute, Yonsei University College of Medicine – sequence: 11 givenname: Junho surname: Kim fullname: Kim, Junho organization: Severance Biomedical Science Institute, Yonsei University College of Medicine – sequence: 12 givenname: Hwanseok surname: Rhee fullname: Rhee, Hwanseok organization: Macrogen Bioinformatics Center, Macrogen, Gasan-dong, Geumcheon-gu – sequence: 13 givenname: Seok-Gu surname: Kang fullname: Kang, Seok-Gu organization: Epilepsy Research Institute, Yonsei University College of Medicine, Department of Neurosurgery, Pediatric Epilepsy Clinics, Brain Korea 21 project for medical science, Severance Children's Hospital, Yonsei University College of Medicine – sequence: 14 givenname: Heung Dong surname: Kim fullname: Kim, Heung Dong organization: Division of Pediatric Neurology, Department of Pediatrics, Pediatric Epilepsy Clinics, Severance Children's Hospital, Epilepsy Research Institute, Yonsei University College of Medicine – sequence: 15 givenname: Daesoo surname: Kim fullname: Kim, Daesoo organization: Department of Biological Sciences, KAIST – sequence: 16 givenname: Dong-Seok surname: Kim fullname: Kim, Dong-Seok email: dskim33@yuhs.ac organization: Epilepsy Research Institute, Yonsei University College of Medicine, Department of Neurosurgery, Pediatric Epilepsy Clinics, Brain Korea 21 project for medical science, Severance Children's Hospital, Yonsei University College of Medicine – sequence: 17 givenname: Jeong Ho surname: Lee fullname: Lee, Jeong Ho email: jhlee4246@kaist.ac.kr organization: Graduate School of Medical Science and Engineering, KAIST |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/25799227$$D View this record in MEDLINE/PubMed |
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| Title | Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy |
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