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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Bibliographic Details
Published in:Journal of medical genetics 2001-06, Vol.38 (6), p.400-405
Main Authors: Finnilä, Saara, Autere, Jaana, Lehtovirta, Maarit, Hartikainen, Päivi, Mannermaa, Arto, Soininen, Hilkka, Majamaa, Kari
Format: Article
Language:English
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
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Description
Summary: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.
ISSN:0022-2593
1468-6244
DOI:10.1136/jmg.38.6.400