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    Family Phenotypic Heterogeneity Caused by Mitochondrial DNA Mutation A3243G.
    Acta Med Port 2017 Aug 31;30(7-8):581-585. Epub 2017 Aug 31.
    Serviço de Medicina Interna. Hospital Amato Lusitano. Castelo Branco. Portugal.
    Maternally inherited diabetes and deafness is a rare form of diabetes caused by a mitochondrial DNA mutation. The index case is a 55-year-old woman who was admitted with hypertrophic cardiomyopathy. She had a history of diabetes mellitus and hearing loss. The patient's mother, two brothers and two sisters also had a history of diabetes and hearing loss. This pattern suggests a maternally inherited disorder. All siblings carried the A3243G mitochondrial DNA mutation. The identification of people with monogenic forms of diabetes mellitus is a diagnostic challenge. This condition should be considered whenever there is a history of diabetes associated with hearing loss and a relevant family history. Cardiopathy is also known to be an important feature of mitochondrial disease. In order to identify this aetiology, family screening, genetic counselling and screening of associated comorbidities are encouraged.

    Similar Publications

    Heterogeneous phenotypic manifestations of maternally inherited deafness associated with the mitochondrial A3243G mutation. Case report.
    Neurol Neurochir Pol 2014 23;48(2):150-3. Epub 2014 Jan 23.
    Department of Clinical Neurology, Clinical Hospital of H. Święcicki by University of Medical Sciences, Poznań, Poland; Department of Clinical Neuroimmunology, Chair of Neurology, University of Medical Sciences, Poznań, Poland; Neuroimmunological Unit, Institute of Experimental and Clinical Medicine, Polish Academy of Sciences, Poznań, Poland.
    The A3243G mutation is one of the most frequent mutations of mitochondrial DNA. The phenotypic expression of the A3243G mutation is variable and causes a wide range of syndromic and non-syndromic clinical disorders. Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome is the most frequent syndromic manifestation of the A3243G mutation. Read More
    Diabetes mellitus, deafness, muscle weakness and hypocalcemia in a patient with an A3243G mutation of the mitochondrial DNA.
    Intern Med 2000 Mar;39(3):249-52
    Department of Internal Medicine, Saijo Central Hospital, Ehime.
    In a 54-year-old woman with diabetes mellitus, hearing loss, muscle weakness and hypocalcemia, caused by idiopathic hypoparathyroidism, an A to G transition at the nucleotide position of 3243 (A3243G mutation) was found in the mitochondrial DNA from her leukocytes. Clinical features of diabetes mellitus and hearing loss in association with the A3243G mutation are compatible with a diagnosis of maternally inherited diabetes and deafness (MIDD). Although hypoparathyroidism is rarely seen in MIDD, we consider that hypoparathyroidism in this patient is a possible phenotype caused by the A3243G mutation of mitochondrial DNA. Read More
    Pigmentary retinal dystrophy and the syndrome of maternally inherited diabetes and deafness caused by the mitochondrial DNA 3243 tRNA(Leu) A to G mutation.
    Ophthalmology 1999 Jun;106(6):1101-8
    Department of Medicine, University of Birmingham & Birmingham Heartlands Hospital, England.
    Objective: To study the association of retinal disease and the syndrome of maternally inherited diabetes and deafness caused by an A to G mutation in the tRNA leucine gene at base pair 3243 (A3243G) of the mitochondrial genome.

    Design: Observational study of a genetically defined subject group.

    Participants: Thirteen subjects with the mitochondrial DNA A3243G mutation from seven different pedigrees with maternally inherited diabetes and deafness. Read More
    Search for mitochondrial A3243G tRNA(Leu) mutation in Polish patients with type 2 diabetes mellitus.
    Med Sci Monit 2001 Mar-Apr;7(2):246-50
    Department of Metabolic Diseases, Medical College, Jagellonian University, Cracow, Poland.
    Background: The influences of genetic and environmental factors form a clinical picture of type 2 diabetes mellitus. Genetic studies of type 2 diabetes mellitus become increasingly important. The knowledge of the molecular background of type 2 diabetes has been growing rapidly over recent years. Read More