Clinical Expression of Leber Hereditary Optic Neuropathy Is Affected by the Mitochondrial DNA–Haplogroup Background

Leber hereditary optic neuropathy (LHON) is due primarily to one of three common point mutations of mitochondrial DNA (mtDNA), but the incomplete penetrance implicates additional genetic or environmental factors in the pathophysiology of the disorder. Both the 11778G→A and 14484T→C LHON mutations ar...

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Published in	American journal of human genetics Vol. 81; no. 2; pp. 228 - 233
Main Authors	Hudson, Gavin, Carelli, Valerio, Spruijt, Liesbeth, Gerards, Mike, Mowbray, Catherine, Achilli, Alessandro, Pyle, Angela, Elson, Joanna, Howell, Neil, La Morgia, Chiara, Valentino, Maria Lucia, Huoponen, Kirsi, Savontaus, Marja-Liisa, Nikoskelainen, Eeva, Sadun, Alfredo A., Salomao, Solange R., Belfort, Rubens, Griffiths, Philip, Man, Patrick Yu Wai, de Coo, Rene F.M., Horvath, Rita, Zeviani, Massimo, Smeets, Hubert J.T., Torroni, Antonio, Chinnery, Patrick F.
Format	Journal Article
Language	English
Published	Chicago, IL Elsevier Inc 01.08.2007 University of Chicago Press Cell Press American Society of Human Genetics
Subjects	Adult Biological and medical sciences Blindness - genetics DNA, Mitochondrial Female Fundamental and applied biological sciences. Psychology Gene Frequency General aspects. Genetic counseling Genetic Variation Genetics Genetics of eukaryotes. Biological and molecular evolution Haplotypes Humans Male Medical genetics Medical sciences Mitochondrial DNA Molecular and cellular biology Mutation Neurological disorders Optic Atrophy, Hereditary, Leber - genetics Penetrance Risk Factors Sex Factors Human Haplogroup Genetics Leber optic neuropathy Mitochondrial DNA Gene expression Hereditary
Online Access	Get full text
ISSN	0002-9297 1537-6605
DOI	10.1086/519394

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Abstract	Leber hereditary optic neuropathy (LHON) is due primarily to one of three common point mutations of mitochondrial DNA (mtDNA), but the incomplete penetrance implicates additional genetic or environmental factors in the pathophysiology of the disorder. Both the 11778G→A and 14484T→C LHON mutations are preferentially found on a specific mtDNA genetic background, but 3460G→A is not. However, there is no clear evidence that any background influences clinical penetrance in any of these mutations. By studying 3,613 subjects from 159 LHON-affected pedigrees, we show that the risk of visual failure is greater when the 11778G→A or 14484T→C mutations are present in specific subgroups of haplogroup J (J2 for 11778G→A and J1 for 14484T→C) and when the 3460G→A mutation is present in haplogroup K. By contrast, the risk of visual failure is significantly less when 11778G→A occurs in haplogroup H. Substitutions on MTCYB provide an explanation for these findings, which demonstrate that common genetic variants have a marked effect on the expression of an ostensibly monogenic mtDNA disorder.
AbstractList	Leber hereditary optic neuropathy (LHON) is due primarily to one of three common point mutations of mitochondrial DNA (mtDNA), but the incomplete penetrance implicates additional genetic or environmental factors in the pathophysiology of the disorder. Both the 11778G...A and 14484T...C LHON mutations are preferentially found on a specific mtDNA genetic background, but 3460G...A is not. However, there is no clear evidence that any background influences clinical penetrance in any of these mutations. By studying 3,613 subjects from 159 LHON-affected pedigrees, we show that the risk of visual failure is greater when the 11778G...A or 14484T...C mutations are present in specific subgroups of haplogroup J (J2 for 11778G...A and J1 for 14484T...C) and when the 3460G...A mutation is present in haplogroup K. By contrast, the risk of visual failure is significantly less when 11778G...A occurs in haplogroup H. Substitutions on MTCYB provide an explanation for these findings, which demonstrate that common genetic variants have a marked effect on the expression of an ostensibly monogenic mtDNA disorder. (ProQuest-CSA LLC: ... denotes formulae/symbols omitted.) Leber hereditary optic neuropathy (LHON) is due primarily to one of three common point mutations of mitochondrial DNA (mtDNA), but the Incomplete penetrance implicates additional genetic or environmental factors in the pathophysiology of the disorder. Both the 11778G arrow right A and 14484T arrow right C LHON mutations are preferentially found on a specific mtDNA genetic background, but 3460G arrow right A is not However, there is no clear evidence that any background influences clinical penetrance in any of these mutations. By studying 3, 613 subjects from 159 LHON-affected pedigrees, we show that the risk of visual failure is greater when the 11778G arrow right A or 14484T arrow right C mutations are present in specific subgroups of haplogroup J (J2 for 11778G arrow right A and J1 for 14484T arrow right C) and when the 3460G arrow right A mutation is present in haplogroup K. By contrast, the risk of visual failure is significantly less when 11778G arrow right A occurs in haplogroup H. Substitutions on MTCYB provide an explanation for these findings, which demonstrate that common genetic variants have a marked effect on the expression of an ostensibly monogenic mtDNA disorder. Leber hereditary optic neuropathy (LHON) is due primarily to one of three common point mutations of mitochondrial DNA (mtDNA), but the incomplete penetrance implicates additional genetic or environmental factors in the pathophysiology of the disorder. Both the 11778G-->A and 14484T-->C LHON mutations are preferentially found on a specific mtDNA genetic background, but 3460G-->A is not. However, there is no clear evidence that any background influences clinical penetrance in any of these mutations. By studying 3,613 subjects from 159 LHON-affected pedigrees, we show that the risk of visual failure is greater when the 11778G-->A or 14484T-->C mutations are present in specific subgroups of haplogroup J (J2 for 11778G-->A and J1 for 14484T-->C) and when the 3460G-->A mutation is present in haplogroup K. By contrast, the risk of visual failure is significantly less when 11778G-->A occurs in haplogroup H. Substitutions on MTCYB provide an explanation for these findings, which demonstrate that common genetic variants have a marked effect on the expression of an ostensibly monogenic mtDNA disorder. Leber hereditary optic neuropathy (LHON) is due primarily to one of three common point mutations of mitochondrial DNA (mtDNA), but the incomplete penetrance implicates additional genetic or environmental factors in the pathophysiology of the disorder. Both the 11778G→A and 14484T→C LHON mutations are preferentially found on a specific mtDNA genetic background, but 3460G→A is not. However, there is no clear evidence that any background influences clinical penetrance in any of these mutations. By studying 3,613 subjects from 159 LHON-affected pedigrees, we show that the risk of visual failure is greater when the 11778G→A or 14484T→C mutations are present in specific subgroups of haplogroup J (J2 for 11778G→A and J1 for 14484T→C) and when the 3460G→A mutation is present in haplogroup K. By contrast, the risk of visual failure is significantly less when 11778G→A occurs in haplogroup H. Substitutions on MTCYB provide an explanation for these findings, which demonstrate that common genetic variants have a marked effect on the expression of an ostensibly monogenic mtDNA disorder. Leber hereditary optic neuropathy (LHON) is due primarily to one of three common point mutations of mitochondrial DNA (mtDNA), but the incomplete penetrance implicates additional genetic or environmental factors in the pathophysiology of the disorder. Both the 11778G→A and 14484T→C LHON mutations are preferentially found on a specific mtDNA genetic background, but 3460G→A is not. However, there is no clear evidence that any background influences clinical penetrance in any of these mutations. By studying 3,613 subjects from 159 LHON-affected pedigrees, we show that the risk of visual failure is greater when the 11778G→A or 14484T→C mutations are present in specific subgroups of haplogroup J (J2 for 11778G→A and J1 for 14484T→C) and when the 3460G→A mutation is present in haplogroup K. By contrast, the risk of visual failure is significantly less when 11778G→A occurs in haplogroup H. Substitutions on MTCYB provide an explanation for these findings, which demonstrate that common genetic variants have a marked effect on the expression of an ostensibly monogenic mtDNA disorder. Leber hereditary optic neuropathy (LHON) is due primarily to one of three common point mutations of mitochondrial DNA (mtDNA), but the incomplete penetrance implicates additional genetic or environmental factors in the pathophysiology of the disorder. Both the 11778G-->A and 14484T-->C LHON mutations are preferentially found on a specific mtDNA genetic background, but 3460G-->A is not. However, there is no clear evidence that any background influences clinical penetrance in any of these mutations. By studying 3,613 subjects from 159 LHON-affected pedigrees, we show that the risk of visual failure is greater when the 11778G-->A or 14484T-->C mutations are present in specific subgroups of haplogroup J (J2 for 11778G-->A and J1 for 14484T-->C) and when the 3460G-->A mutation is present in haplogroup K. By contrast, the risk of visual failure is significantly less when 11778G-->A occurs in haplogroup H. Substitutions on MTCYB provide an explanation for these findings, which demonstrate that common genetic variants have a marked effect on the expression of an ostensibly monogenic mtDNA disorder.Leber hereditary optic neuropathy (LHON) is due primarily to one of three common point mutations of mitochondrial DNA (mtDNA), but the incomplete penetrance implicates additional genetic or environmental factors in the pathophysiology of the disorder. Both the 11778G-->A and 14484T-->C LHON mutations are preferentially found on a specific mtDNA genetic background, but 3460G-->A is not. However, there is no clear evidence that any background influences clinical penetrance in any of these mutations. By studying 3,613 subjects from 159 LHON-affected pedigrees, we show that the risk of visual failure is greater when the 11778G-->A or 14484T-->C mutations are present in specific subgroups of haplogroup J (J2 for 11778G-->A and J1 for 14484T-->C) and when the 3460G-->A mutation is present in haplogroup K. By contrast, the risk of visual failure is significantly less when 11778G-->A occurs in haplogroup H. Substitutions on MTCYB provide an explanation for these findings, which demonstrate that common genetic variants have a marked effect on the expression of an ostensibly monogenic mtDNA disorder.
Author	Nikoskelainen, Eeva Smeets, Hubert J.T. Howell, Neil Salomao, Solange R. Pyle, Angela Horvath, Rita Gerards, Mike Huoponen, Kirsi Griffiths, Philip Belfort, Rubens Zeviani, Massimo Spruijt, Liesbeth Achilli, Alessandro de Coo, Rene F.M. Mowbray, Catherine Valentino, Maria Lucia Elson, Joanna Man, Patrick Yu Wai Savontaus, Marja-Liisa Sadun, Alfredo A. Carelli, Valerio Chinnery, Patrick F. La Morgia, Chiara Torroni, Antonio Hudson, Gavin
AuthorAffiliation	From the Mitochondrial Research Group (G.H.; C.M.; A.P.; J.E.; P.G.; P.Y.W.M; P.F.C.), Department of Ophthalmology (P.G.; P.Y.W.M), and Institute of Human Genetics (P.F.C.), Newcastle University, Newcastle upon Tyne, United Kingdom; Dipartimento di Scienze Neurologiche, Universita di Bologna, Bologna (V.C.; C.L.M.; M.L.V.); Doheny Eye Institute, Keck/University of Southern California School of Medicine, Los Angeles (V.C.; A.A.S.); Radboud University Nijmegen Medical Centre, Department of Human Genetics, Nijmegen, The Netherlands (L.S.); Department of Genetics and Cell Biology, Maastricht University, Maastricht, The Netherlands (M.G.; H.J.T.S.); Dipartimento di Genetica e Microbiologia, Università di Pavia, Pavia, Italy (A.A.; A.T.); MIGENIX, San Diego (N.H.); Department of Medical Genetics, University of Turku (K.H.; M.-L.S.), and Department of Ophthalmology, Turku University Central Hospital (E.N.), Turku, Finland; Departamento de Oftalmologia, Universidade Federal de Sao Paulo, Sao P
AuthorAffiliation_xml	– name: From the Mitochondrial Research Group (G.H.; C.M.; A.P.; J.E.; P.G.; P.Y.W.M; P.F.C.), Department of Ophthalmology (P.G.; P.Y.W.M), and Institute of Human Genetics (P.F.C.), Newcastle University, Newcastle upon Tyne, United Kingdom; Dipartimento di Scienze Neurologiche, Universita di Bologna, Bologna (V.C.; C.L.M.; M.L.V.); Doheny Eye Institute, Keck/University of Southern California School of Medicine, Los Angeles (V.C.; A.A.S.); Radboud University Nijmegen Medical Centre, Department of Human Genetics, Nijmegen, The Netherlands (L.S.); Department of Genetics and Cell Biology, Maastricht University, Maastricht, The Netherlands (M.G.; H.J.T.S.); Dipartimento di Genetica e Microbiologia, Università di Pavia, Pavia, Italy (A.A.; A.T.); MIGENIX, San Diego (N.H.); Department of Medical Genetics, University of Turku (K.H.; M.-L.S.), and Department of Ophthalmology, Turku University Central Hospital (E.N.), Turku, Finland; Departamento de Oftalmologia, Universidade Federal de Sao Paulo, Sao Paulo (S.R.S.; R.B.); Department of Child Neurology, Erasmus Medical Center, University Medical Center Rotterdam, Rotterdam (R.F.M.d.C.); Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University of Munich, and Medical Genetic Center Munich, Munich (R.H.); and Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children’s Mitochondrial Disorders, Foundation “C. Besta” Neurological Institute–IRCCS, Milan (M.Z.)
Author_xml	– sequence: 1 givenname: Gavin surname: Hudson fullname: Hudson, Gavin organization: Mitochondrial Research Group, Newcastle University, Newcastle upon Tyne, United Kingdom – sequence: 2 givenname: Valerio surname: Carelli fullname: Carelli, Valerio organization: Dipartimento di Scienze Neurologiche, Universita di Bologna, Bologna – sequence: 3 givenname: Liesbeth surname: Spruijt fullname: Spruijt, Liesbeth organization: Radboud University Nijmegen Medical Centre, Department of Human Genetics, Nijmegen, The Netherlands – sequence: 4 givenname: Mike surname: Gerards fullname: Gerards, Mike organization: Department of Genetics and Cell Biology, Maastricht University, Maastricht, The Netherlands – sequence: 5 givenname: Catherine surname: Mowbray fullname: Mowbray, Catherine organization: Mitochondrial Research Group, Newcastle University, Newcastle upon Tyne, United Kingdom – sequence: 6 givenname: Alessandro surname: Achilli fullname: Achilli, Alessandro organization: Dipartimento di Genetica e Microbiologia, Università di Pavia, Pavia, Italy – sequence: 7 givenname: Angela surname: Pyle fullname: Pyle, Angela organization: Mitochondrial Research Group, Newcastle University, Newcastle upon Tyne, United Kingdom – sequence: 8 givenname: Joanna surname: Elson fullname: Elson, Joanna organization: Mitochondrial Research Group, Newcastle University, Newcastle upon Tyne, United Kingdom – sequence: 9 givenname: Neil surname: Howell fullname: Howell, Neil organization: MIGENIX, San Diego – sequence: 10 givenname: Chiara surname: La Morgia fullname: La Morgia, Chiara organization: Dipartimento di Scienze Neurologiche, Universita di Bologna, Bologna – sequence: 11 givenname: Maria Lucia surname: Valentino fullname: Valentino, Maria Lucia organization: Dipartimento di Scienze Neurologiche, Universita di Bologna, Bologna – sequence: 12 givenname: Kirsi surname: Huoponen fullname: Huoponen, Kirsi organization: Department of Ophthalmology, Turku University Central Hospital, Turku, Finland – sequence: 13 givenname: Marja-Liisa surname: Savontaus fullname: Savontaus, Marja-Liisa organization: Department of Medical Genetics, University of Turku, Turku, Finland – sequence: 14 givenname: Eeva surname: Nikoskelainen fullname: Nikoskelainen, Eeva organization: Department of Ophthalmology, Turku University Central Hospital, Turku, Finland – sequence: 15 givenname: Alfredo A. surname: Sadun fullname: Sadun, Alfredo A. organization: Doheny Eye Institute, Keck/University of Southern California School of Medicine, Los Angeles – sequence: 16 givenname: Solange R. surname: Salomao fullname: Salomao, Solange R. organization: Departamento de Oftalmologia, Universidade Federal de Sao Paulo, Sao Paulo – sequence: 17 givenname: Rubens surname: Belfort fullname: Belfort, Rubens organization: Departamento de Oftalmologia, Universidade Federal de Sao Paulo, Sao Paulo – sequence: 18 givenname: Philip surname: Griffiths fullname: Griffiths, Philip organization: Mitochondrial Research Group, Newcastle University, Newcastle upon Tyne, United Kingdom – sequence: 19 givenname: Patrick Yu Wai surname: Man fullname: Man, Patrick Yu Wai organization: Department of Ophthalmology, Newcastle University, Newcastle upon Tyne, United Kingdom – sequence: 20 givenname: Rene F.M. surname: de Coo fullname: de Coo, Rene F.M. organization: Department of Child Neurology, Erasmus Medical Center, University Medical Center Rotterdam, Rotterdam – sequence: 21 givenname: Rita surname: Horvath fullname: Horvath, Rita organization: Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University of Munich, and Medical Genetic Center Munich, Munich – sequence: 22 givenname: Massimo surname: Zeviani fullname: Zeviani, Massimo organization: Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children’s Mitochondrial Disorders, Foundation “C. Besta” Neurological Institute–IRCCS, Milan – sequence: 23 givenname: Hubert J.T. surname: Smeets fullname: Smeets, Hubert J.T. organization: Department of Genetics and Cell Biology, Maastricht University, Maastricht, The Netherlands – sequence: 24 givenname: Antonio surname: Torroni fullname: Torroni, Antonio organization: Dipartimento di Genetica e Microbiologia, Università di Pavia, Pavia, Italy – sequence: 25 givenname: Patrick F. surname: Chinnery fullname: Chinnery, Patrick F. email: P.F.Chinnery@ncl.ac.uk organization: Mitochondrial Research Group, Newcastle University, Newcastle upon Tyne, United Kingdom
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Keywords	Human Haplogroup Genetics Leber optic neuropathy Mitochondrial DNA Gene expression Hereditary
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Snippet	Leber hereditary optic neuropathy (LHON) is due primarily to one of three common point mutations of mitochondrial DNA (mtDNA), but the incomplete penetrance... Leber hereditary optic neuropathy (LHON) is due primarily to one of three common point mutations of mitochondrial DNA (mtDNA), but the Incomplete penetrance...
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SubjectTerms	Adult Biological and medical sciences Blindness - genetics DNA, Mitochondrial Female Fundamental and applied biological sciences. Psychology Gene Frequency General aspects. Genetic counseling Genetic Variation Genetics Genetics of eukaryotes. Biological and molecular evolution Haplotypes Humans Male Medical genetics Medical sciences Mitochondrial DNA Molecular and cellular biology Mutation Neurological disorders Optic Atrophy, Hereditary, Leber - genetics Penetrance Risk Factors Sex Factors
Title	Clinical Expression of Leber Hereditary Optic Neuropathy Is Affected by the Mitochondrial DNA–Haplogroup Background
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