Five ADNFLE Mutations Reduce the Ca2+ Dependence of the Mammalian α4β2 Acetylcholine Response
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Five nicotinic acetylcholine receptor (nAChR) mutations are currently linked to autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). The similarity of their clinical symptoms suggests that a common functional anomaly of the mutations underlies ADNFLE seizures. To identify this anomaly, we constructed rat orthologues (S252F, +L264, S256L, V262L, V262M) of the human ADNFLE mutations, expressed them in Xenopus oocytes with the appropriate wild‐type (WT) subunit (α4 or β2), and studied the Ca 2+ dependence of their ACh responses. All the mutations significantly reduced 2 mM Ca 2+‐induced increases in the 30 μM ACh response (P < 0.05). Consistent with a dominant mode of inheritance, this reduction persisted in oocytes injected with a 1:1 mixture of mutant and WT cRNA. BAPTA injections showed that the reduction was not due to a decrease in the secondary activation of Ca 2+‐activated Cl− currents. The S256L mutation also abolished 2 mM Ba 2+ potentiation of the ACh response. The S256L, V262L and V262M mutations had complex effects on the ACh concentration‐response relationship but all three mutations shifted the concentration‐response relationship to the left at [ACh]⩾ 30 μM. Co‐expression of the V262M mutation with a mutation (E180Q) that abolished Ca 2+ potentiation resulted in 2 mM Ca 2+ block, rather than potentiation, of the 30 μM ACh response, suggesting that the ADNFLE mutations reduce Ca 2+ potentiation by enhancing Ca 2+ block of the α4β2 nAChR. Ca 2+ modulation may prevent presynaptic α4β2 nAChRs from overstimulating glutamate release at central excitatory synapses during bouts of synchronous, repetitive activity. Reducing the Ca 2+ dependence of the ACh response could trigger seizures by increasing α4β2‐mediated glutamate release during such bouts.
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Heterologous expression shows that ADNFLE receptors have a gain of function.
“In experiments conducted since ADNFLE was mapped in 1995, heterologous expression shows that ADNFLE receptors have a gain of function.”
From Nicotine is a selective pharmacological chaperone of acetylcholine receptor number and stoichiometry. Implications for drug discovery (2009) · cites this paper as [32]
Other data show that ADNFLE mutant receptors are less sensitive than WT receptors to decreased external Ca2+.
“Other data show that the mutant receptors are less sensitive than WT receptors to decreased external Ca2+ (31,32).”
From Nicotine is a selective pharmacological chaperone of acetylcholine receptor number and stoichiometry. Implications for drug discovery (2009) · cites this paper as [32]
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- Authors
- Rodrigues‐Pinguet, N., Jia, L., Li, M., Figl, A., Klaassen, A., Truong, A., Lester, H. A., & Cohen, B. N.
- Affiliations
- University of California, Riverside (US)
- University of California, Los Angeles (US)
- California Institute of Technology (US)
- Corresponding author
- Cohen, Bruce N.
- Venue
- The Journal of Physiology
- Publisher
- Wiley
- Published
- 2003-07
- Volume
- 550
- Issue
- 1
- Pages
- 11-26
- ISSN
- 0022-3751 (ISSN-L)
- 1469-7793
- PMC
- PMC2343021
- OpenAlex
- W1592246578
- Cited by
- 85
- References
- 63
- Citations by year
- 2026: 1 · 2025: 3 · 2024: 1 · 2023: 1 · 2022: 1 · 2021: 2 · 2020: 4 · 2016: 2 · 2015: 3 · 2014: 1 · 2013: 3 · 2012: 6
- FWCI
- 2.76
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- The Journal of Physiology (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- CaltechAUTHORS (California Institute of Technology) (submittedVersion)
- Funders
- National Institute of Neurological Disorders and Stroke (NS43800, NS 11756, R01NS043800, R01NS011756)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Nicotinic Acetylcholine Receptors Study
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Ion channel regulation and function
- Health Sciences › Medicine › Psychiatry and Mental health › Epilepsy research and treatment
- Keywords
- autosomal dominant nocturnal frontal lobe epilepsy, nicotinic acetylcholine receptors, alpha4beta2 nAChR, calcium block, acetylcholine response, glutamate release, presynaptic receptors, seizure pathogenesis, calcium-activated chloride current
- MeSH terms
- Acetylcholine, Amino Acid Sequence, Animals, Barium, Calcium, Cell Membrane, Circadian Rhythm, Electric Conductivity, Genes, Dominant, Homeostasis, Molecular Sequence Data, Mutation, Oocytes, Pyridines, Reaction Time, Receptors, Nicotinic, Xenopus laevis, Artifacts, Epilepsy, Frontal Lobe, Chloride Channels, Nicotinic Agonists, Bridged Bicyclo Compounds, Heterocyclic, Rats
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