Homozygous Groggy dams, which carry a Cacna1a missense mutation, often show no interest in their offspring, leading to frequent offspring deaths due to lack of nurturing. The present study aimed to clarify whether the Cacna1a mutation contributes to impaired attachment behaviors between dam and offspring. The open field test showed that homozygous female rats exhibited markedly short travel distance, whereas no difference was found between the motor activity of heterozygous females and that of wild types (WT). A series of behavioral tests was performed to compare the mother-offspring relationship between WT and heterozygous rats. Performance in the pup retrieval test was significantly less successful in heterozygous than WT dams. During the experiment, heterozygous dams spent significantly less time licking and crouching than WT dams. The offspring dam-seeking behavior test revealed that heterozygous pups' vocalizations were significantly less frequent and shorter than those of WT pups. Although no significant difference was found between WT and heterozygous offspring in the olfactory sense test, using a piece of chocolate, heterozygous pups took significantly longer to reach a sample of the dam's bedding. Taken together, these findings suggest that the Cacna1a mutation impairs both the dam's maternal behavior and the offspring's attachment behavior toward the dam.
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http://dx.doi.org/10.1538/expanim.19-0086 | DOI Listing |
Mol Brain
November 2024
Michael Smith Laboratories, University of British Columbia, 2185 East Mall, Vancouver, BC, V6T 1Z4, Canada.
P/Q-type (Ca2.1) calcium channels mediate Ca influx essential for neuronal excitability and synaptic transmission. The CACNA1A gene, encoding the Ca2.
View Article and Find Full Text PDFCells
October 2024
Institut de Recherches Servier, Rue Francis Perrin, 91190 Gif-sur-Yvette, France.
Developmental and Epileptic Encephalopathies (DEEs) represent a clinically and genetically heterogeneous group of rare and severe epilepsies. DEEs commonly begin early in infancy with frequent seizures of various types associated with intellectual disability and leading to a neurodevelopmental delay or regression. Disease-causing genomic variants have been identified in numerous genes and are implicated in over 100 types of DEEs.
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November 2024
Biomedical Research Institute, Seoul National University Bundang Hospital, Seongnam, Korea.
Curr Neurol Neurosci Rep
December 2024
Department of Neurology, Vivekananda Institute of Medical Science, Kolkata, West Bengal, India.
Headache
September 2024
Neurology Section, Department of Neuroscience, Università Cattolica del Sacro Cuore, Rome, Italy.
Background: Familial hemiplegic migraine (FHM) is a rare subtype of migraine with aura. Variants in calcium voltage-gated channel subunit alpha1 A (CACNA1A), ATPase Na+/K+ transporting subunit alpha 2 (ATP1A2), and sodium voltage-gated channel alpha subunit 1 (SCN1A) genes have a well-established association with the development of FHM. Recent studies suggest that other genes may also have a significant role in the pathogenesis of FHM, including proline-rich transmembrane protein 2 (PRRT2).
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