A case of 3243A>G mutation in mtDNA presenting as apparently idiopathic hyperCKemia

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• 作者：Anna Rubegni¹ ; ² ; Elena Cardaioli¹ ; ² ; Elena Chini² ; Paola Da Pozzo² ; Carla Battisti² ; Alessandro Malandrini ; ^{alessandro.malandrini@unisi.it" class="auth_mail} ; Antonio Federico²
• 关键词：MELAS syndrome ; Mitochondrial myopathy ; Idiopathic hyperCKemia ; 3243A> ; G mutation ; Heteroplasmy ; Mutation load
• 刊名：Journal of the Neurological Sciences
• 出版年：15 March, 2014
• 年：2014
• 卷：338
• 期：1-2
• 页码：232-234
• 全文大小：896 K

文摘

The 3243A>G mutation of mtDNA usually is associated with MELAS syndrome. Here we report a patient with the 3243A>G mutation presenting only recurrent muscle fatigue and elevated levels of serum creatine kinase (CK). The mother of the proband was referred to us for type 2 diabetes mellitus, muscle pain and sensorineural hearing loss. The percentage of mutation load in different tissues was similar in both subjects, except in the urinary epithelium. The mutation load in the son's urinary epithelial cells (UEC) was consistently higher (nearly 50%) than in his muscle (nearly 20%). We conclude that a correlation between the proportion of the UEC mutation load and the severity of the disease was lacking in this pedigree. The use of UEC as the tissue of choice in the noninvasive diagnosis of the 3243A>G mutation offers a very attractive alternative to muscle biopsy. Finally, our data expand the clinical spectrum of the 3243A>G mutation.