TY - JOUR
T1 - A case of 3243A>G mutation in mtDNA presenting as apparently idiopathic hyperCKemia
AU - Rubegni, Anna
AU - Cardaioli, Elena
AU - Chini, Elena
AU - Da Pozzo, Paola
AU - Battisti, Carla
AU - Malandrini, Alessandro
AU - Federico, Antonio
PY - 2014/3/15
Y1 - 2014/3/15
N2 - 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.
AB - 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.
KW - 3243A>G mutation
KW - Heteroplasmy
KW - Idiopathic hyperCKemia
KW - MELAS syndrome
KW - Mitochondrial myopathy
KW - Mutation load
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U2 - 10.1016/j.jns.2014.01.010
DO - 10.1016/j.jns.2014.01.010
M3 - Article
C2 - 24468540
AN - SCOPUS:84896731765
VL - 338
SP - 232
EP - 234
JO - Journal of the Neurological Sciences
JF - Journal of the Neurological Sciences
SN - 0022-510X
IS - 1-2
ER -