A novel ATP1A2 gene mutation in an Irish familial hemiplegic migraine kindred

Headache
Desiree M FernandezNollaig A Parfrey

Abstract

We studied a large Irish Caucasian pedigree with familial hemiplegic migraine (FHM) with the aim of finding the causative gene mutation. FHM is a rare autosomal-dominant subtype of migraine with aura, which is linked to 4 loci on chromosomes 19p13, 1q23, 2q24, and 1q31. The mutations responsible for hemiplegic migraine have been described in the CACNA1A gene (chromosome 19p13), ATP1A2 gene (chromosome 1q23), and SCN1A gene (chromosome 2q24). We performed linkage analyses in this family for chromosome 1q23 and performed mutation analysis of the ATP1A2 gene. Linkage to the FHM2 locus on chromosome 1 was demonstrated. Mutation screening of the ATP1A2 gene revealed a G to C substitution in exon 22 resulting in a novel protein variant, D999H, which co-segregates with FHM within this pedigree and is absent in 50 unaffected individuals. This residue is also highly conserved across species. We propose that D999H is a novel FHM ATP1A2 mutation.

References

Mar 1, 1983·Journal of Neurophysiology·R P KraigC Nicholson
Feb 1, 1994·Brain : a Journal of Neurology·M Lauritzen
Sep 1, 1993·Nature Genetics·A JoutelJ Weissenbach
May 6, 1996·Biochimica Et Biophysica Acta·J V MøllerM le Maire
Dec 31, 1997·Neurology·K GardnerE P Hoffman
Dec 31, 1997·Italian Journal of Neurological Sciences·L MonariP Montagna
Apr 26, 2001·Neurology·G M TerwindtUNKNOWN Dutch Migraine Genetics Research Group
Jul 7, 2001·The New England Journal of Medicine·A DucrosE Tournier-Lasserve
Jan 23, 2002·American Journal of Medical Genetics·R A LeaL R Griffiths
Jul 12, 2002·Cephalalgia : an International Journal of Headache·L Lykke ThomsenM B Russell
Jul 12, 2002·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·R BrugnoniG Bussone
Jul 12, 2002·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·S CevoliP Montagna
Sep 18, 2002·Proceedings of the National Academy of Sciences of the United States of America·Angelita TotteneDaniela Pietrobon
Nov 30, 2002·The Journal of Biological Chemistry·Amy E MoseleyJerry B Lingrel
Feb 26, 2003·Annals of Neurology·Roberto MarconiGiorgio Casari
Nov 19, 2003·Human Genetics·Miguel Estevez, Kathy L Gardner
May 18, 2004·Journal of Neurology, Neurosurgery, and Psychiatry·J Olesen, T J Steiner
Jun 24, 2004·Archives of Neurology·Joanna C JenRobert W Baloh
Aug 10, 2005·Human Mutation·Florence RiantElisabeth Tournier-Lasserve
Jan 27, 2006·Annals of Neurology·K R J VanmolkotA M J M van den Maagdenberg
Feb 14, 2006·Cephalalgia : an International Journal of Headache·F PierelliF M Santorelli
Mar 16, 2006·European Journal of Human Genetics : EJHG·Kaate R J VanmolkotArn M J M van den Maagdenberg

❮ Previous
Next ❯

Citations

Oct 30, 2008·Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences·J Preben MorthPoul Nissen
Nov 8, 2016·Case Reports in Neurological Medicine·E MartínezJ J Tellería
Jan 25, 2018·Molecules : a Journal of Synthetic Chemistry and Natural Product Chemistry·Xinguo LuShaoliang Peng

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.