Rapid disease progression in adult-onset mitochondrial membrane protein-associated neurodegeneration
Neurodegeneration with brain iron accumulation (NBIA) comprises a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by progressive degeneration of the central nervous system and high basal ganglia iron deposition. The list of identified causative genes for NB...
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| Veröffentlicht in: | Clinical genetics 2013-10, Vol.84 (4), p.350-355 |
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| creator | Dogu, O Krebs, CE Kaleagasi, H Demirtas, Z Oksuz, N Walker, RH Paisán-Ruiz, C |
| description | Neurodegeneration with brain iron accumulation (NBIA) comprises a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by progressive degeneration of the central nervous system and high basal ganglia iron deposition. The list of identified causative genes for NBIA syndromes continues to expand and includes one autosomal dominant, one X‐linked, and a number of recessive forms. Mitochondrial membrane protein‐associated neurodegeneration is a recently described NBIA syndrome caused by C19orf12 mutations. In this study, we report two consanguineous families with a homozygous C19orf12 p.Thr11Met mutation. Our patients presented at a later age and had more rapid disease progression, leading to early death in two, than those previously reported. We conclude that C19orf12 mutation is associated with wide phenotypic heterogeneity, and that further research is needed to examine the role of C19orf12 in NBIA and related diseases and to elucidate its protein function as well as other factors that may affect disease progression and expression. |
| doi_str_mv | 10.1111/cge.12079 |
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The list of identified causative genes for NBIA syndromes continues to expand and includes one autosomal dominant, one X‐linked, and a number of recessive forms. Mitochondrial membrane protein‐associated neurodegeneration is a recently described NBIA syndrome caused by C19orf12 mutations. In this study, we report two consanguineous families with a homozygous C19orf12 p.Thr11Met mutation. Our patients presented at a later age and had more rapid disease progression, leading to early death in two, than those previously reported. We conclude that C19orf12 mutation is associated with wide phenotypic heterogeneity, and that further research is needed to examine the role of C19orf12 in NBIA and related diseases and to elucidate its protein function as well as other factors that may affect disease progression and expression.</description><identifier>ISSN: 0009-9163</identifier><identifier>EISSN: 1399-0004</identifier><identifier>DOI: 10.1111/cge.12079</identifier><identifier>PMID: 23278385</identifier><language>eng</language><publisher>Oxford, UK: Blackwell Publishing Ltd</publisher><subject>Adult ; Adult-onset NBIA ; Age of Onset ; autozygosity mapping ; Brain - metabolism ; Brain - pathology ; C19orf12 ; Chromosomes, Human, Pair 19 ; Consanguinity ; Disease Progression ; Disease transmission ; Fatal Outcome ; Humans ; Loss of Heterozygosity ; Magnetic Resonance Imaging ; Male ; Membrane Proteins - genetics ; Membrane Proteins - metabolism ; Mitochondria ; Mitochondrial Proteins - genetics ; Mitochondrial Proteins - metabolism ; Mutation ; Neurodegeneration ; Neurodegenerative Diseases - diagnosis ; Neurodegenerative Diseases - genetics ; Neurodegenerative Diseases - metabolism ; Pedigree ; Polymorphism, Single Nucleotide ; Proteins ; rapid disease progression</subject><ispartof>Clinical genetics, 2013-10, Vol.84 (4), p.350-355</ispartof><rights>2012 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd</rights><rights>2012 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.</rights><rights>2013 John Wiley & Sons A/S. 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The list of identified causative genes for NBIA syndromes continues to expand and includes one autosomal dominant, one X‐linked, and a number of recessive forms. Mitochondrial membrane protein‐associated neurodegeneration is a recently described NBIA syndrome caused by C19orf12 mutations. In this study, we report two consanguineous families with a homozygous C19orf12 p.Thr11Met mutation. Our patients presented at a later age and had more rapid disease progression, leading to early death in two, than those previously reported. We conclude that C19orf12 mutation is associated with wide phenotypic heterogeneity, and that further research is needed to examine the role of C19orf12 in NBIA and related diseases and to elucidate its protein function as well as other factors that may affect disease progression and expression.</description><subject>Adult</subject><subject>Adult-onset NBIA</subject><subject>Age of Onset</subject><subject>autozygosity mapping</subject><subject>Brain - metabolism</subject><subject>Brain - pathology</subject><subject>C19orf12</subject><subject>Chromosomes, Human, Pair 19</subject><subject>Consanguinity</subject><subject>Disease Progression</subject><subject>Disease transmission</subject><subject>Fatal Outcome</subject><subject>Humans</subject><subject>Loss of Heterozygosity</subject><subject>Magnetic Resonance Imaging</subject><subject>Male</subject><subject>Membrane Proteins - genetics</subject><subject>Membrane Proteins - metabolism</subject><subject>Mitochondria</subject><subject>Mitochondrial Proteins - genetics</subject><subject>Mitochondrial Proteins - metabolism</subject><subject>Mutation</subject><subject>Neurodegeneration</subject><subject>Neurodegenerative Diseases - diagnosis</subject><subject>Neurodegenerative Diseases - genetics</subject><subject>Neurodegenerative Diseases - metabolism</subject><subject>Pedigree</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Proteins</subject><subject>rapid disease progression</subject><issn>0009-9163</issn><issn>1399-0004</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkc9LHDEcxYNUdKse_AfKQC_tYXTyYybJsSx2Ky4WtUXxEjLJd7axM8mazND63ze66qFQaC6PwOc93peH0CGujnB-x2YFR5hUXG6hGaZSllVVsTdolkWWEjd0F71N6S5_Ka_lDtollHBBRT1D9lKvnS2sS6ATFOsYVhFScsEXzhfaTv1YBp9gLAY3BvMjeBud7osBhjZq_-QYwflSpxSM0yPYwsMUg4UVeIh6zFH7aLvTfYKDZ91D3z-ffJt_KZdfF6fzT8vSMMJkCV0tOO8slhxzWxMQtGWaadpqgo1ujWl0g7Pgjja1BYuF0BwTkFJSxgzdQx82ubnU_QRpVINLBvo-Fw1TUpjVomaYEvEfKKWk4ZWoM_r-L_QuTNHnQx4pTHIDSjL1cUOZGFKK0Kl1dIOODwpX6nEllVdSTytl9t1z4tQOYF_Jl1kycLwBfrkeHv6dpOaLk5fIcuNwaYTfrw4df6qG59XV9flC3VzdXJzdLs_VGf0DR0ysGw</recordid><startdate>201310</startdate><enddate>201310</enddate><creator>Dogu, O</creator><creator>Krebs, CE</creator><creator>Kaleagasi, H</creator><creator>Demirtas, Z</creator><creator>Oksuz, N</creator><creator>Walker, RH</creator><creator>Paisán-Ruiz, C</creator><general>Blackwell Publishing Ltd</general><scope>BSCLL</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>201310</creationdate><title>Rapid disease progression in adult-onset mitochondrial membrane protein-associated neurodegeneration</title><author>Dogu, O ; Krebs, CE ; Kaleagasi, H ; Demirtas, Z ; Oksuz, N ; Walker, RH ; Paisán-Ruiz, C</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4249-ef5877fd19717d52e83b4a4a3ba21cabcc6a61bcc1f365ded188a712e999344c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><topic>Adult</topic><topic>Adult-onset NBIA</topic><topic>Age of Onset</topic><topic>autozygosity mapping</topic><topic>Brain - metabolism</topic><topic>Brain - pathology</topic><topic>C19orf12</topic><topic>Chromosomes, Human, Pair 19</topic><topic>Consanguinity</topic><topic>Disease Progression</topic><topic>Disease transmission</topic><topic>Fatal Outcome</topic><topic>Humans</topic><topic>Loss of Heterozygosity</topic><topic>Magnetic Resonance Imaging</topic><topic>Male</topic><topic>Membrane Proteins - genetics</topic><topic>Membrane Proteins - metabolism</topic><topic>Mitochondria</topic><topic>Mitochondrial Proteins - genetics</topic><topic>Mitochondrial Proteins - metabolism</topic><topic>Mutation</topic><topic>Neurodegeneration</topic><topic>Neurodegenerative Diseases - diagnosis</topic><topic>Neurodegenerative Diseases - genetics</topic><topic>Neurodegenerative Diseases - metabolism</topic><topic>Pedigree</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Proteins</topic><topic>rapid disease progression</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Dogu, O</creatorcontrib><creatorcontrib>Krebs, CE</creatorcontrib><creatorcontrib>Kaleagasi, H</creatorcontrib><creatorcontrib>Demirtas, Z</creatorcontrib><creatorcontrib>Oksuz, N</creatorcontrib><creatorcontrib>Walker, RH</creatorcontrib><creatorcontrib>Paisán-Ruiz, C</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Clinical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Dogu, O</au><au>Krebs, CE</au><au>Kaleagasi, H</au><au>Demirtas, Z</au><au>Oksuz, N</au><au>Walker, RH</au><au>Paisán-Ruiz, C</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Rapid disease progression in adult-onset mitochondrial membrane protein-associated neurodegeneration</atitle><jtitle>Clinical genetics</jtitle><addtitle>Clin Genet</addtitle><date>2013-10</date><risdate>2013</risdate><volume>84</volume><issue>4</issue><spage>350</spage><epage>355</epage><pages>350-355</pages><issn>0009-9163</issn><eissn>1399-0004</eissn><abstract>Neurodegeneration with brain iron accumulation (NBIA) comprises a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by progressive degeneration of the central nervous system and high basal ganglia iron deposition. The list of identified causative genes for NBIA syndromes continues to expand and includes one autosomal dominant, one X‐linked, and a number of recessive forms. Mitochondrial membrane protein‐associated neurodegeneration is a recently described NBIA syndrome caused by C19orf12 mutations. In this study, we report two consanguineous families with a homozygous C19orf12 p.Thr11Met mutation. Our patients presented at a later age and had more rapid disease progression, leading to early death in two, than those previously reported. We conclude that C19orf12 mutation is associated with wide phenotypic heterogeneity, and that further research is needed to examine the role of C19orf12 in NBIA and related diseases and to elucidate its protein function as well as other factors that may affect disease progression and expression.</abstract><cop>Oxford, UK</cop><pub>Blackwell Publishing Ltd</pub><pmid>23278385</pmid><doi>10.1111/cge.12079</doi><tpages>6</tpages></addata></record> |
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| subjects | Adult Adult-onset NBIA Age of Onset autozygosity mapping Brain - metabolism Brain - pathology C19orf12 Chromosomes, Human, Pair 19 Consanguinity Disease Progression Disease transmission Fatal Outcome Humans Loss of Heterozygosity Magnetic Resonance Imaging Male Membrane Proteins - genetics Membrane Proteins - metabolism Mitochondria Mitochondrial Proteins - genetics Mitochondrial Proteins - metabolism Mutation Neurodegeneration Neurodegenerative Diseases - diagnosis Neurodegenerative Diseases - genetics Neurodegenerative Diseases - metabolism Pedigree Polymorphism, Single Nucleotide Proteins rapid disease progression |
| title | Rapid disease progression in adult-onset mitochondrial membrane protein-associated neurodegeneration |
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