Abstract
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 tRNALeu 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.
| Original language | English |
|---|---|
| Pages (from-to) | 919-927 |
| Number of pages | 9 |
| Journal | Cephalalgia |
| Volume | 30 |
| Issue number | 8 |
| DOIs | |
| Publication status | Published - Aug 2010 |
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Keywords
- CPEO
- Genetic
- MELAS
- Migraine
- Oxidative phosphorylation
- Stroke-like
ASJC Scopus subject areas
- Clinical Neurology
- Medicine(all)
Cite this
High frequency of migraine-only patients negative for the 3243 A>G tRNALeu mtDNA mutation in two MELAS families. / Cevoli, Sabina; Pallotti, Francesco; Morgia, Chiara La; Valentino, Maria L.; Pierangeli, Giulia; Cortelli, Pietro; Baruzzi, Agostino; Montagna, Pasquale; Carelli, Valerio.
In: Cephalalgia, Vol. 30, No. 8, 08.2010, p. 919-927.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - High frequency of migraine-only patients negative for the 3243 A>G tRNALeu mtDNA mutation in two MELAS families
AU - Cevoli, Sabina
AU - Pallotti, Francesco
AU - Morgia, Chiara La
AU - Valentino, Maria L.
AU - Pierangeli, Giulia
AU - Cortelli, Pietro
AU - Baruzzi, Agostino
AU - Montagna, Pasquale
AU - Carelli, Valerio
PY - 2010/8
Y1 - 2010/8
N2 - 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 tRNALeu 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.
AB - 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 tRNALeu 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.
KW - CPEO
KW - Genetic
KW - MELAS
KW - Migraine
KW - Oxidative phosphorylation
KW - Stroke-like
UR - http://www.scopus.com/inward/record.url?scp=78349250598&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=78349250598&partnerID=8YFLogxK
U2 - 10.1177/0333102409354654
DO - 10.1177/0333102409354654
M3 - Article
C2 - 20656703
AN - SCOPUS:78349250598
VL - 30
SP - 919
EP - 927
JO - Cephalalgia
JF - Cephalalgia
SN - 0333-1024
IS - 8
ER -