High frequency of migraine-only patients negative for the 3243 A>G tRNALeu mtDNA mutation in two MELAS families

Cephalalgia : an International Journal of Headache
Sabina CevoliValerio Carelli

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 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...Continue Reading

References

Aug 1, 1991·Journal of the Neurological Sciences·N BresolinE Lugaresi
Aug 1, 1988·Headache·P MontagnaE Lugaresi
May 1, 1995·Journal of Neurology, Neurosurgery, and Psychiatry·P MontagnaM Fiocchi
Feb 1, 1994·Brain : a Journal of Neurology·M Lauritzen
Jun 1, 1994·Cephalalgia : an International Journal of Headache·P MontagnaB Barbiroli
Apr 1, 1994·Neurology·P MontagnaE Lugaresi
Feb 1, 1994·Cephalalgia : an International Journal of Headache·S SangiorgiP Montagna
Jun 1, 1996·Neurology·T KlopstockH Reichmann
Aug 1, 1996·Stroke; a Journal of Cerebral Circulation·J M GilchristS Shanske
Apr 1, 1999·Cephalalgia : an International Journal of Headache·J HaanM D Ferrari
May 19, 2000·Cephalalgia : an International Journal of Headache·P Montagna
Jan 30, 2004·JAMA : the Journal of the American Medical Association·Mark C KruitLenore J Launer
Jun 17, 2004·European Journal of Human Genetics : EJHG·Martina T McDonnellRobert W Taylor
Sep 16, 2004·American Journal of Medical Genetics. Part a·Qingxue WangRichard G Boles
Dec 17, 2004·Brain : a Journal of Neurology·Michael von BrevernThomas Lempert
Mar 25, 2006·Cephalalgia : an International Journal of Headache·M SparacoM E Bigal
Sep 25, 2007·Cephalalgia : an International Journal of Headache·A M RhodeS Evers
Feb 7, 2008·American Journal of Human Genetics·Harsha Karur RajasimhaDavid C Samuels
Sep 2, 2008·Expert Review of Neurotherapeutics·Pasquale Montagna
Feb 18, 2009·Cephalalgia : an International Journal of Headache·E A ZakiR G Boles

❮ Previous
Next ❯

Citations

Jan 8, 2014·Current Neurology and Neuroscience Reports·Amy Z Crepeau
Nov 22, 2016·Pediatric Neurology·Josef Finsterer, Sinda Zarrouk-Mahjoub
Oct 6, 2015·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·S GuoM Ashina
Oct 6, 2019·Nature Reviews. Neurology·Elena C GrossJean Schoenen
Jun 23, 2018·Current Medicinal Chemistry·Sabina CevoliPietro Cortelli
May 19, 2021·Neurology India·Divyani Garg, Manjari Tripathi

❮ Previous
Next ❯

Methods Mentioned

BETA
PCR
biopsies
biopsy

Related Concepts

Related Feeds

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.