Till sidans topp

Sidansvarig: Webbredaktion
Sidan uppdaterades: 2012-09-11 15:12

Tipsa en vän
Utskriftsversion

Spectrum of myopathic fin… - Göteborgs universitet Till startsida
Webbkarta
Till innehåll Läs mer om hur kakor används på gu.se

Spectrum of myopathic findings in 50 patients with the 3243A>G mutation in mitochondrial DNA

Artikel i vetenskaplig tidskrift
Författare Mikko Kärppä
Ritta Herva
Ali-Reza Moslemi
Anders Oldfors
Sakari Kakko
Kari Majamaa
Publicerad i Brain
Volym 128
Nummer/häfte Pt 8
Sidor 1861-9
Publiceringsår 2005
Publicerad vid Institutionen för laboratoriemedicin , Avdelningen för patologi
Sidor 1861-9
Språk en
Länkar dx.doi.org/10.1093/brain/awh515
Ämnesord Adolescent, Adult, Age of Onset, Aged, Cohort Studies, DNA, Mitochondrial/*genetics, Electron Transport Complex IV/analysis, Exertion/physiology, Female, Humans, MELAS Syndrome/genetics, Male, Microscopy, Electron/methods, Middle Aged, Mitochondrial Myopathies/blood/*genetics/pathology, Muscle Fibers/pathology, Muscle, Skeletal/pathology, Mutation/genetics, Phenotype, Research Support, Non-U.S. Gov't
Ämneskategorier Medicin och Hälsovetenskap

Sammanfattning

Myopathy is a typical clinical finding among patients with the 3243A>G mutation in mitochondrial DNA (mtDNA), but the variability in such findings has not been properly established. We have previously determined the prevalence of patients with 3243A>G in a defined population in northern Finland and characterized a group of patients who represent a good approximation to a population-based cohort. We report here on examinations performed on patients belonging to this cohort in order to determine the frequency of myopathy and to evaluate the clinical, histological, ultrastructural and single fibre mtDNA variability in muscle involvement. Fifty patients with 3243A>G underwent a thorough structured interview and clinical examination. Muscle histology, ultrastructure and single fibre analysis were examined in a subset of patients. A clinical diagnosis of myopathy was made in 50% of cases [95% confidence interval (CI), 36-64] and abnormalities in muscle histology were found in 72% (95% CI, 55-86). Moderate limb weakness leading to functional impairment was the most common myopathic sign, but mild weakness, ptosis and external ophthalmoplegia could also be found. The presence of intramitochondrial crystals and cytochrome c oxidase (COX)-negative fibres and variation in mitochondrial size and shape were more common in the muscles of the myopathic patients. Longitudinal variations in mutation heteroplasmy were examined in single muscle fibres from two severely affected patients. Although the total variation in mutation heteroplasmy along four ragged red fibres (RRFs) was small, the mutation heteroplasmy in five 10 microm segments was clearly lower (median 68%, range 64-74%) than that in the neighbouring segments. There were also segments with deviant mutation load in histologically normal fibres in one patient. The highest incidence of myopathy was in the fifth decade of life, but, apart from age, no other clinical variables such as gender, muscle heteroplasmy, physical inactivity or diabetes were associated with an increased risk of myopathy. The clinical presentation of myopathy is highly variable in patients with 3243A>G.

Sidansvarig: Webbredaktion|Sidan uppdaterades: 2012-09-11
Dela:

På Göteborgs universitet använder vi kakor (cookies) för att webbplatsen ska fungera på ett bra sätt för dig. Genom att surfa vidare godkänner du att vi använder kakor.  Vad är kakor?