Increased risk of sensorineural hearing loss and migraine in patients with a rare mitochondrial DNA variant 4336A>G in tRNAGln
By contrast, deleterious mutations have arisen repeatedly and occur against various genomic backgrounds. Since they reduce the fitness of carriers, however, the affected maternal lineages eventually become extinct. Patients with diabetes mellitus, epilepsy, sensorineural hearing loss, occipital stro...
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| Veröffentlicht in: | Journal of medical genetics 2001-06, Vol.38 (6), p.400-405 |
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| container_title | Journal of medical genetics |
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| creator | Finnilä, Saara Autere, Jaana Lehtovirta, Maarit Hartikainen, Päivi Mannermaa, Arto Soininen, Hilkka Majamaa, Kari |
| description | By contrast, deleterious mutations have arisen repeatedly and occur against various genomic backgrounds. Since they reduce the fitness of carriers, however, the affected maternal lineages eventually become extinct. Patients with diabetes mellitus, epilepsy, sensorineural hearing loss, occipital stroke, ophthalmoplegia, intracranial calcification, white matter disease, ataxia, and migraine were ascertained as described previously. 8-11 The patients with diabetes mellitus, epilepsy, or sensorineural hearing loss had a family history of similar diseases in maternal relatives. |
| doi_str_mv | 10.1136/jmg.38.6.400 |
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Since they reduce the fitness of carriers, however, the affected maternal lineages eventually become extinct. Patients with diabetes mellitus, epilepsy, sensorineural hearing loss, occipital stroke, ophthalmoplegia, intracranial calcification, white matter disease, ataxia, and migraine were ascertained as described previously. 8-11 The patients with diabetes mellitus, epilepsy, or sensorineural hearing loss had a family history of similar diseases in maternal relatives.</description><identifier>ISSN: 0022-2593</identifier><identifier>EISSN: 1468-6244</identifier><identifier>DOI: 10.1136/jmg.38.6.400</identifier><identifier>PMID: 11424923</identifier><identifier>CODEN: JMDGAE</identifier><language>eng</language><publisher>London: BMJ</publisher><subject>Adenosine Triphosphatases - genetics ; Adult ; Age ; Aged ; Alzheimer's disease ; Animals ; Ataxia ; Biological and medical sciences ; Calcification ; Cardiomyopathy ; Cohort Studies ; Confidence intervals ; Conserved Sequence ; Dementia ; Deoxyribonucleic acid ; Diabetes ; DNA ; DNA, Mitochondrial - genetics ; Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology ; Epilepsy ; Evolution, Molecular ; Female ; Genetic Predisposition to Disease ; Haplotypes ; Headaches ; Hearing loss ; Hearing Loss, Sensorineural - diagnosis ; Hearing Loss, Sensorineural - genetics ; Humans ; Letters to the Editor ; Male ; Medical sciences ; Middle Aged ; Migraine ; Migraine Disorders - diagnosis ; Migraine Disorders - genetics ; Mitochondrial DNA ; Mitochondrial Proton-Translocating ATPases ; Mutation ; Non tumoral diseases ; Otorhinolaryngology. 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Since they reduce the fitness of carriers, however, the affected maternal lineages eventually become extinct. Patients with diabetes mellitus, epilepsy, sensorineural hearing loss, occipital stroke, ophthalmoplegia, intracranial calcification, white matter disease, ataxia, and migraine were ascertained as described previously. 8-11 The patients with diabetes mellitus, epilepsy, or sensorineural hearing loss had a family history of similar diseases in maternal relatives.</description><subject>Adenosine Triphosphatases - genetics</subject><subject>Adult</subject><subject>Age</subject><subject>Aged</subject><subject>Alzheimer's disease</subject><subject>Animals</subject><subject>Ataxia</subject><subject>Biological and medical sciences</subject><subject>Calcification</subject><subject>Cardiomyopathy</subject><subject>Cohort Studies</subject><subject>Confidence intervals</subject><subject>Conserved Sequence</subject><subject>Dementia</subject><subject>Deoxyribonucleic acid</subject><subject>Diabetes</subject><subject>DNA</subject><subject>DNA, Mitochondrial - genetics</subject><subject>Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology</subject><subject>Epilepsy</subject><subject>Evolution, Molecular</subject><subject>Female</subject><subject>Genetic Predisposition to Disease</subject><subject>Haplotypes</subject><subject>Headaches</subject><subject>Hearing loss</subject><subject>Hearing Loss, Sensorineural - diagnosis</subject><subject>Hearing Loss, Sensorineural - genetics</subject><subject>Humans</subject><subject>Letters to the Editor</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Migraine</subject><subject>Migraine Disorders - diagnosis</subject><subject>Migraine Disorders - genetics</subject><subject>Mitochondrial DNA</subject><subject>Mitochondrial Proton-Translocating ATPases</subject><subject>Mutation</subject><subject>Non tumoral diseases</subject><subject>Otorhinolaryngology. 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| ispartof | Journal of medical genetics, 2001-06, Vol.38 (6), p.400-405 |
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| language | eng |
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| source | MEDLINE; EZB-FREE-00999 freely available EZB journals; PubMed Central; Alma/SFX Local Collection |
| subjects | Adenosine Triphosphatases - genetics Adult Age Aged Alzheimer's disease Animals Ataxia Biological and medical sciences Calcification Cardiomyopathy Cohort Studies Confidence intervals Conserved Sequence Dementia Deoxyribonucleic acid Diabetes DNA DNA, Mitochondrial - genetics Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology Epilepsy Evolution, Molecular Female Genetic Predisposition to Disease Haplotypes Headaches Hearing loss Hearing Loss, Sensorineural - diagnosis Hearing Loss, Sensorineural - genetics Humans Letters to the Editor Male Medical sciences Middle Aged Migraine Migraine Disorders - diagnosis Migraine Disorders - genetics Mitochondrial DNA Mitochondrial Proton-Translocating ATPases Mutation Non tumoral diseases Otorhinolaryngology. Stomatology Parkinson's disease Patients Phylogeny Polymorphism, Single Nucleotide RNA, Transfer, Gln - genetics |
| title | Increased risk of sensorineural hearing loss and migraine in patients with a rare mitochondrial DNA variant 4336A>G in tRNAGln |
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