Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa
Progeroid disorders overlapping with De Barsy syndrome (DBS) are collectively denoted as autosomal-recessive cutis laxa type 3 (ARCL3). They are caused by biallelic mutations in PYCR1 or ALDH18A1, encoding pyrroline-5-carboxylate reductase 1 and pyrroline-5-carboxylate synthase (P5CS), respectively,...
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| Published in: | American journal of human genetics Vol. 97; no. 3; pp. 483 - 492 |
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| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format: | Journal Article |
| Language: | English |
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03-09-2015
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| Abstract | Progeroid disorders overlapping with De Barsy syndrome (DBS) are collectively denoted as autosomal-recessive cutis laxa type 3 (ARCL3). They are caused by biallelic mutations in PYCR1 or ALDH18A1, encoding pyrroline-5-carboxylate reductase 1 and pyrroline-5-carboxylate synthase (P5CS), respectively, which both operate in the mitochondrial proline cycle. We report here on eight unrelated individuals born to non-consanguineous families clinically diagnosed with DBS or wrinkly skin syndrome. We found three heterozygous mutations in ALDH18A1 leading to amino acid substitutions of the same highly conserved residue, Arg138 in P5CS. A de novo origin was confirmed in all six probands for whom parental DNA was available. Using fibroblasts from affected individuals and heterologous overexpression, we found that the P5CS-p.Arg138Trp protein was stable and able to interact with wild-type P5CS but showed an altered sub-mitochondrial distribution. A reduced size upon native gel electrophoresis indicated an alteration of the structure or composition of P5CS mutant complex. Furthermore, we found that the mutant cells had a reduced P5CS enzymatic activity leading to a delayed proline accumulation. In summary, recurrent de novo mutations, affecting the highly conserved residue Arg138 of P5CS, cause an autosomal-dominant form of cutis laxa with progeroid features. Our data provide insights into the etiology of cutis laxa diseases and will have immediate impact on diagnostics and genetic counseling. |
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| AbstractList | Progeroid disorders overlapping with De Barsy syndrome (DBS) are collectively denoted as autosomal-recessive cutis laxa type 3 (ARCL3). They are caused by biallelic mutations in PYCR1 or ALDH18A1, encoding pyrroline-5-carboxylate reductase 1 and pyrroline-5-carboxylate synthase (P5CS), respectively, which both operate in the mitochondrial proline cycle. We report here on eight unrelated individuals born to non-consanguineous families clinically diagnosed with DBS or wrinkly skin syndrome. We found three heterozygous mutations in ALDH18A1 leading to amino acid substitutions of the same highly conserved residue, Arg138 in P5CS. A de novo origin was confirmed in all six probands for whom parental DNA was available. Using fibroblasts from affected individuals and heterologous overexpression, we found that the P5CS-p.Arg138Trp protein was stable and able to interact with wild-type P5CS but showed an altered sub-mitochondrial distribution. A reduced size upon native gel electrophoresis indicated an alteration of the structure or composition of P5CS mutant complex. Furthermore, we found that the mutant cells had a reduced P5CS enzymatic activity leading to a delayed proline accumulation. In summary, recurrent de novo mutations, affecting the highly conserved residue Arg138 of P5CS, cause an autosomal-dominant form of cutis laxa with progeroid features. Our data provide insights into the etiology of cutis laxa diseases and will have immediate impact on diagnostics and genetic counseling. Progeroid disorders overlapping with De Barsy syndrome (DBS) are collectively denoted as autosomal-recessive cutis laxa type 3 (ARCL3). They are caused by biallelic mutations in PYCR1 or ALDH18A1, encoding pyrroline-5-carboxylate reductase 1 and pyrroline-5-carboxylate synthase (P5CS), respectively, which both operate in the mitochondrial proline cycle. We report here on eight unrelated individuals born to non-consanguineous families clinically diagnosed with DBS or wrinkly skin syndrome. We found three heterozygous mutations in ALDH18A1 leading to amino acid substitutions of the same highly conserved residue, Arg138 in P5CS. A de novo origin was confirmed in all six probands for whom parental DNA was available. Using fibroblasts from affected individuals and heterologous overexpression, we found that the P5CS-p.Arg138Trp protein was stable and able to interact with wild-type P5CS but showed an altered submitochondrial distribution. A reduced size upon native gel electrophoresis indicated an alteration of the structure or composition of P5CS mutant complex. Furthermore, we found that the mutant cells had a reduced P5CS enzymatic activity leading to a delayed proline accumulation. In summary, recurrent de novo mutations, affecting the highly conserved residue Arg138 of P5CS, cause an autosomal-dominant form of cutis laxa with progeroid features. Our data provide insights into the etiology of cutis laxa diseases and will have immediate impact on diagnostics and genetic counseling. Progeroid disorders overlapping with De Barsy syndrome (DBS) are collectively denoted as autosomal-recessive cutis laxa type 3 (ARCL3). They are caused by biallelic mutations in PYCR1 or ALDH18A1 , encoding pyrroline-5-carboxylate reductase 1 and pyrroline-5-carboxylate synthase (P5CS), respectively, which both operate in the mitochondrial proline cycle. We report here on eight unrelated individuals born to non-consanguineous families clinically diagnosed with DBS or wrinkly skin syndrome. We found three heterozygous mutations in ALDH18A1 leading to amino acid substitutions of the same highly conserved residue, Arg138 in P5CS. A de novo origin was confirmed in all six probands for whom parental DNA was available. Using fibroblasts from affected individuals and heterologous overexpression, we found that the P5CS-p.Arg138Trp protein was stable and able to interact with wild-type P5CS but showed an altered sub-mitochondrial distribution. A reduced size upon native gel electrophoresis indicated an alteration of the structure or composition of P5CS mutant complex. Furthermore, we found that the mutant cells had a reduced P5CS enzymatic activity leading to a delayed proline accumulation. In summary, recurrent de novo mutations, affecting the highly conserved residue Arg138 of P5CS, cause an autosomal-dominant form of cutis laxa with progeroid features. Our data provide insights into the etiology of cutis laxa diseases and will have immediate impact on diagnostics and genetic counseling. |
| Author | Loh, Abigail Escande-Beillard, Nathalie Villarroel, Camilo E. Al-Gazali, Lihadh Tan, Yu Xuan Byers, Peter Reversade, Bruno Krüger, Ulrike Rahikkala, Elisa Symoens, Sofie Wright, Graham D. Robinson, Peter N. Reichert, Sara L. Fischer-Zirnsak, Björn Bahena, Paulina Liu, Jaron Mundlos, Stefan van Ravenswaaij-Arts, Conny Callewaert, Bert Lin, Angela E. Meierhofer, David Pivnick, Eniko K. Choudhri, Asim F. Kornak, Uwe Zemojtel, Tomasz Robertson, Stephen P. Schwarze, Ulrike Mostafavi, Roya Pajunen, Leila Al Bughaili, Mohammed Stolte-Dijkstra, Irene Sahai, Inderneel Ganesh, Jaya Masri, Amira |
| AuthorAffiliation | 11 Department of Ophthalmology, University of Tennessee Health Science Center, Memphis, TN 38163, USA 9 Department of Pediatrics, Division of Medical Genetics and Department of Ophthalmology, University of Tennessee Health Science Center, Memphis, TN 38163, USA 2 FG Development & Disease, Max-Planck-Institut fuer Molekulare Genetik, 14195 Berlin, Germany 19 Berlin-Brandenburg Center for Regenerative Therapies, Charité-Universitaetsmedizin Berlin, 13353 Berlin, Germany 22 Department of Women’s and Children’s Health, University of Otago, 9016 Dunedin, New Zealand 4 Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA 7 Institute of Molecular and Cellular Biology, A ∗ STAR, 138648 Singapore, Singapore 10 Department of Radiology, University of Tennessee Health Science Center, Memphis, TN 38163, USA 16 Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium 3 Institute of Medical Biology, A ∗ STAR, 138648 Singapore, Singapore 15 Department of Genetics, University Medic |
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Schwarze, Ulrike organization: Department of Pathology, University of Washington, Seattle, WA 98195-7470, USA – sequence: 32 givenname: Bert surname: Callewaert fullname: Callewaert, Bert organization: Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium – sequence: 33 givenname: Bruno surname: Reversade fullname: Reversade, Bruno email: bruno@reversade.com organization: Institute of Medical Biology, A∗STAR, 138648 Singapore, Singapore – sequence: 34 givenname: Uwe surname: Kornak fullname: Kornak, Uwe email: uwe.kornak@charite.de organization: Institut fuer Medizinische Genetik und Humangenetik, Charité-Universitaetsmedizin Berlin, 13353 Berlin, Germany |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/26320891$$D View this record in MEDLINE/PubMed |
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| Copyright | 2015 The American Society of Human Genetics Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. Copyright Cell Press Sep 3, 2015 2015 by The American Society of Human Genetics. All rights reserved. 2015 The American Society of Human Genetics |
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| Keywords | P5CS progeroid syndrome cutis laxa proline metabolism mitochondria pyrroline-5-carboxylate synthase PYCR1 De Barsy syndrome ALDH18A1 |
| Language | English |
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| PublicationYear | 2015 |
| Publisher | Elsevier Inc Cell Press Elsevier |
| Publisher_xml | – name: Elsevier Inc – name: Cell Press – name: Elsevier |
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| Snippet | Progeroid disorders overlapping with De Barsy syndrome (DBS) are collectively denoted as autosomal-recessive cutis laxa type 3 (ARCL3). They are caused by... |
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| SubjectTerms | ALDH18A1 Amino Acid Sequence Amino acids Base Sequence Corneal Opacity - genetics Corneal Opacity - pathology cutis laxa Cutis Laxa - genetics Cutis Laxa - pathology De Barsy syndrome Genes, Dominant - genetics Genetic disorders Humans Intellectual Disability - genetics Intellectual Disability - pathology mitochondria Molecular Sequence Data Mutation Mutation, Missense - genetics Ornithine-Oxo-Acid Transaminase - genetics P5CS Pedigree progeroid syndrome Proline - metabolism Proteins PYCR1 pyrroline-5-carboxylate synthase Sequence Alignment Sequence Analysis, DNA Skin - pathology Species Specificity |
| Title | Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa |
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