Department of Neurological Sciences, University of Bologna, Bologna, Italy.
Cephalalgia. 2010 Aug;30(8):919-27. doi: 10.1177/0333102409354654. Epub 2010 Mar 12.
Migraine is associated with stroke-like episodes in mitochondrial encephalomyopathy, lactic acidosis, stroke-like syndrome (MELAS). Moreover, abnormalities of oxidative phosphorylation are also reported in migraine. We studied two maternal lineages with MELAS and chronic progressive external ophthalmoplegia (CPEO) affected probands carrying the 3243 A>G tRNA(Leu) (MELAS) mutation, remarkable for a high frequency of subjects suffering only migraine. Thus, migraine could be a monosymptomatic expression of the MELAS mutation. We assessed the 3243 A>G tRNA(Leu) mutational load in skeletal muscle and other somatic tissues from the migraine-only subjects, as well as lactic acid levels after exercise. All migraine-only subjects did not carry the MELAS mutation. Muscle biopsy showed mild mitochondrial abnormalities in the non-mutant, migraine-only subjects and, occasionally, abnormal lactic acid. Clear features of mitochondrial myopathy and pathological lactic acid characterised the subjects carrying the MELAS mutation. Our study demonstrates that migraine-only subjects lacked the MELAS mutation, but still had a possible mtDNA-associated genetic predisposition, being maternally related and having some evidence of impaired mitochondrial oxidative phosphorylation.
偏头痛与线粒体脑肌病、乳酸酸中毒和卒中样发作（MELAS）的卒中样发作有关。此外，偏头痛也被报道存在氧化磷酸化异常。我们研究了两个携带 MELAS 和慢性进行性眼外肌麻痹（CPEO）的母系家族，受影响的先证者携带 3243 A>G tRNA（Leu）（MELAS）突变，这些患者的偏头痛发病率非常高。因此，偏头痛可能是 MELAS 突变的单症状表现。我们评估了仅患有偏头痛的受试者的骨骼肌和其他体细胞组织中的 3243 A>G tRNA（Leu）突变负荷，以及运动后乳酸水平。所有仅患有偏头痛的受试者均未携带 MELAS 突变。肌肉活检显示非突变、仅患有偏头痛的受试者存在轻度线粒体异常，偶尔也存在异常乳酸。携带 MELAS 突变的受试者具有明确的线粒体肌病特征和病理性乳酸。我们的研究表明，仅患有偏头痛的受试者缺乏 MELAS 突变，但仍可能存在与 mtDNA 相关的遗传易感性，与母系遗传有关，并存在一些线粒体氧化磷酸化受损的证据。
