Top

Optie A:

Klik op de rechtermuisknop op de link en selecteer de optie “linkadres kopiëren”
Optie B:

Deel de link per e-mail
Link delen

vorige artikel Variety is Not the Spice of Life for People wit...

volgende artikel Predicting Friendship Quality in Autism Spectru...

Tip

Swipe om te navigeren naar een ander artikel

01-06-2010 | Original Paper | Uitgave 6/2010

mRNA and Protein Levels for GABA_Aα4, α5, β1 and GABA_BR1 Receptors are Altered in Brains from Subjects with Autism

Tijdschrift:: Journal of Autism and Developmental Disorders > Uitgave 6/2010

Auteurs:: S. Hossein Fatemi, Teri J. Reutiman, Timothy D. Folsom, Robert J. Rooney, Diven H. Patel, Paul D. Thuras

» Toegang tot de volledige tekst krijgen

Abstract

We have shown altered expression of gamma-aminobutyric acid A (GABA_A) and gamma-aminobutyric acid B (GABA_B) receptors in the brains of subjects with autism. In the current study, we sought to verify our western blotting data for GABBR1 via qRT-PCR and to expand our previous work to measure mRNA and protein levels of 3 GABA_A subunits previously associated with autism (GABRα4; GABRα5; GABRβ1). Three GABA receptor subunits demonstrated mRNA and protein level concordance in superior frontal cortex (GABRα4, GABRα5, GABRβ1) and one demonstrated concordance in cerebellum (GABΒR1). These results provide further evidence of impairment of GABAergic signaling in autism.

Log in om toegang te krijgen

Hier inloggen

Met onderstaand(e) abonnement(en) heeft u direct toegang:

BSL Psychologie Totaal

Met BSL Psychologie Totaal blijft u als professional steeds op de hoogte van de nieuwste ontwikkelingen binnen uw vak. Met het online abonnement heeft u toegang tot een groot aantal boeken, protocollen, vaktijdschriften en e-learnings op het gebied van psychologie en psychiatrie. Zo kunt u op uw gemak en wanneer het u het beste uitkomt verdiepen in uw vakgebied.

Meer informatie

American Psychiatric Association. (1994). Diagnostic and statistical manual of mental disorders (4th ed.). Washington, DC: APA Press.

Ashley-Koch, A. E., Mei, H., Jaworski, J., Ma, D. Q., Ritchie, M. D., Menold, M. M., et al. (2006). An analysis paradigm for investigating multi-locus effects in complex disease: examination of three GABA receptor subunit genes on 15q11-q13 as risk factors for autistic disorder. Annals of Human Genetics, 70, 281–292. CrossRefPubMed

Blatt, G. J., Fitzgerald, C. M., Guptill, J. T., Booker, A. B., Kemper, T. L., & Bauman, M. L. (2001). Density and distribution of hippocampal neurotransmitter receptors in autism: an autoradiographic study. Journal of Autism and Developmental Disorders, 31, 537–544. CrossRefPubMed

Borgatti, R., Piccinelli, P., Passoni, D., Romeo, A., Viri, M., Musumeci, S. A., et al. (2003). Peripheral markers of the gamma-aminobutyric acid (GABA)ergic system in Angelman’s syndrome. Journal of Child Neurology, 18, 21–25. CrossRefPubMed

Brandon, N. J., Smart, T. G., & Moss, S. J. (2000). Regulation of GABAA receptors by protein phosphorylation. In D. Martin & R. Olsen (Eds.), GABA in the nervous system: The view at fifty years (pp. 191–206). Philadelphia, PA: Lippincott, Williams and Wilkins.

Collins, A. L., Ma, D., Whitehead, P. L., Martin, E. R., Wright, H. H., Abramson, R. K., et al. (2006). Investigation of autism and GABA receptor subunit genes in multiple ethnic groups. Neurogenetics, 7, 167–174. CrossRefPubMed

D’Hulst, C., De Geest, N., Reeve, S. P., Van Dam, D., De Deyn, P. P., Hassan, B. A., et al. (2006). Decreased expression of the GABAA receptor in fragile X syndrome. Brain Research, 22(1121), 238–245. CrossRef

Dhossche, D., Applegate, H., Abraham, A., Maertens, P., Bland, L., Bencsath, A., et al. (2002). Elevated plasma gama-aminobutyric acid (GABA) levels in autistic youngsters: Stimulus for GABA hypothesis of autism. Medical Science Monitor, 8, PR1–PR6. PubMed

El Idrissi, A., Ding, X. H., Scalia, J., Trenkner, E., Brown, W. T., & Dobkin, C. (2005). Decreased GABA(A) receptor expression in the seizure-prone fragile X mouse. Neuroscience Letters, 377, 141–146. CrossRefPubMed

Fatemi, S. H., Halt, A., Stary, J., Kanodia, R., Schulz, S. C., & Realmuto, G. (2002). Glutamic acid decarboxylase 65 and 67 kDa proteins are reduced in parietal and cerebellar cortices of autistic subjects. Biological Psychiatry, 52, 805–810. CrossRefPubMed

Fatemi, S. H., Stary, J. M., Earle, J. A., Araghi-Niknam, M., & Eagan, E. (2005). GABAergic dysfunction in schizophrenia and mood disorders as reflected by decreased levels of glutamic acid decarboxylase 65 and 67 kDa and Reelin proteins in cerebellum. Schizophrenia Research, 72, 109–122. CrossRefPubMed

Fatemi, S. H., Reutiman, T. J., Folsom, T. D., Huang, H., Oishi, K., Mori, S., et al. (2008). Maternal infection leads to abnormal gene regulation and brain atrophy in mouse offspring: Implications for genesis of neurodevelopmental disorders. Schizophrenia Research, 99, 56–70. CrossRefPubMed

Fatemi, S. H., Reutiman, T. J., Folsom, T. D., & Thuras, P. D. (2009a). GABA(A) receptor downregulation in brains of subjects with autism. Journal of Autism and Developmental Disorders, 39, 223–230. CrossRefPubMed

Fatemi, S. H., Folsom, T. D., Reutiman, T. J., & Thuras, P. D. (2009b). Expression of GABA(B) receptors is altered in brains of subjects with autism. Cerebellum, 8, 64–69. CrossRefPubMed

Gantois, I., Vandesompele, J., Speleman, F., Reyniers, E., D’Hooge, R., Severijnen, L. A., et al. (2006). Expression profiling suggests underexpression of the GABA(A) receptor subunit delta in the fragile X knockout mouse model. Neurobiology of Diseases, 21, 346–357. CrossRef

Hauser, J., Rudolph, U., Keist, R., Möhler, H., Feldon, J., & Yee, B. K. (2005). Hippocampal alpha5 subunit-containing GABAA receptors modulate the expression of prepulse inhibition. Molecular Psychiatry, 10, 201–207. CrossRefPubMed

Hogart, A., Nagarajan, R. P., Patzel, K. A., Yasui, D. H., & Lasalle, J. M. (2007). 15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders. Human Molecular Genetics, 16, 691–703. CrossRefPubMed

Hogart, A., Leung, K. N., Wang, N. J., Wu, D. J., Driscoll, J., Vallero, R. O., et al. (2009). Chromosome 15q11-13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number. Journal of Medical Genetics, 46, 86–93. CrossRefPubMed

Inada, T., Koga, M., Ishiguro, H., Horiuchi, Y., Syu, A., Yoshio, T., et al. (2008). Pathway-based association analysis of genome-wide screening data suggest that genes associated with the gamma-aminobutyric acid receptor signaling pathway are involved in neuroleptic-induced, treatment-resistant tardive dyskinesia. Pharmacogenetics and Genomics, 18, 317–323. CrossRefPubMed

Jones, K. A., Borowsky, B., Tamm, J. A., Craig, D. A., Durkin, M. M., Dai, M., et al. (1998). GABA(B) receptors function as a heteromeric assembly of the subunits GABA(B)R1 and GABA(B)R2. Nature, 396, 674–679. CrossRefPubMed

Kakinuma, H., Ozaki, M., Sato, H., & Takahashi, H. (2008). Variation in GABA-A subunit gene copy number in an autistic patient with mosaic 4p duplication (p12p16). American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics, 147B, 973–975. CrossRef

Kim, S. A., Kim, J. H., Park, M., Cho, I. H., & Yoo, H. J. (2006). Association of GABRB3 polymorphisms with autism spectrum disorders in Korean trios. Neuropsychobiology, 54, 160–165. CrossRefPubMed

Le-Niculescu, H., Balaraman, Y., Patel, S., Tan, J., Sidhu, K., Jerome, R. E., et al. (2007). Towards understanding the schizophrenia code: an expanded convergent functional genomics approach. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics, 144B, 129–158. CrossRef

Ma, D. Q., Whitehead, P. L., Menold, M. M., Martin, E. R., Ashley-Koch, A. E., Mei, H., et al. (2005). Identification of significant association and gene–gene interaction of GABA receptor subunit genes in autism. American Journal of Human Genetics, 77, 377–388. CrossRefPubMed

Matsuura, T., Sutcliffe, J. S., Fang, P., Galjaard, R. J., Jiang, Y. H., Benton, C. S., et al. (1997). De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nature Genetics, 15, 74–77. CrossRefPubMed

McCauley, J. L., Olson, L. M., Delahanty, R., Amin, T., Nurmi, E. L., Organ, E. L., et al. (2004). A linkage disequilibrium map of the 1-Mb 15q12 GABA(A) receptor subunit cluster and association to autism. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics, 131, 51–59.

Olsen, R. W., & Sieghart, W. (2008). International Union of Pharmacology. LXX. Subtypes of gamma-aminobutyric acid (A) receptors: Classification on the basis of subunit composition, pharmacology, and function. Update. Pharmacological Reviews, 60, 243–260. CrossRefPubMed

Princivalle, A. P., Duncan, J. S., Thom, M., & Bowery, N. G. (2003). GABA(B1a), GABA(B1b) AND GABA(B2) mRNA variants expression in hippocampus resected from patients with temporal lobe epilepsy. Neuroscience, 122, 975–984. CrossRefPubMed

Qian, H., & Ripps, H. (2009). Focus on molecules: The GABA(C) receptor. Experimental Eye Research, 88, 1002–1003. CrossRefPubMed

Samaco, R. C., Hogart, A., & LaSalle, J. M. (2005). Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3. Human Molecular Genetics, 14, 483–492. CrossRefPubMed

Schroer, R. J., Phelan, M. C., Michaelis, R. C., Crawford, E. C., Skinner, S. A., Cuccaro, M., et al. (1998). Autism and maternally derived aberrations of chromosome 15q. American Journal of Medical Genetics, 76, 327–336. CrossRefPubMed

Tochigi, M., Kato, C., Koishi, S., Kawakubo, Y., Yamamoto, K., Matsumoto, H., et al. (2007). No evidence for significant association between GABA receptor genes in chromosome. Journal of Human Genetics, 52, 985–989. CrossRefPubMed

Tuchman, R., & Rapin, I. (2002). Epilepsy in autism. Lancet Neurology, 1, 352–358. CrossRefPubMed

Yip, J., Soghomonian, J. J., & Blatt, G. J. (2007). Decreased GAD67 mRNA levels in cerebellar Purkinje cells in autism: Pathophysiological implications. Acta Neuropathologica, 113, 559–568. CrossRefPubMed

Zai, G., Arnold, P., Burroughs, E., Barr, C. L., Richter, M. A., & Kennedy, J. L. (2005a). Evidence for the gamma-amino-butyric acid type B receptor 1 (GABBR1) gene as a susceptibility factor in obsessive-compulsive disorder. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics, 134, 25–29. CrossRef

Zai, G., King, N., Wong, G. W., Barr, C. L., & Kennedy, J. L. (2005b). Possible association between the gamma-aminobutyric acid type B receptor 1 (GABBR1) gene and schizophrenia. European Neuropsychopharmacology, 15, 347–352. CrossRefPubMed

Titel: mRNA and Protein Levels for GABAAα4, α5, β1 and GABABR1 Receptors are Altered in Brains from Subjects with Autism
Auteurs:: S. Hossein Fatemi
Teri J. Reutiman
Timothy D. Folsom
Robert J. Rooney
Diven H. Patel
Paul D. Thuras
Publicatiedatum: 01-06-2010
DOI: https://doi.org/10.1007/s10803-009-0924-z
Uitgeverij: Springer US
Tijdschrift: Journal of Autism and Developmental Disorders
Uitgave 6/2010
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432

Bohn Stafleu van Loghum

Deel dit onderdeel of sectie (kopieer de link)

Tip

Swipe om te navigeren naar een ander artikel

Abstract

Log in om toegang te krijgen

Met onderstaand(e) abonnement(en) heeft u direct toegang:

BSL Psychologie Totaal

Andere artikelen Uitgave 6/2010

JADD Announcements for June 2010

Improved Diagnostic Validity of the ADOS Revised Algorithms: A Replication Study in an Independent Sample

Gary Mayerson: How to Compromise with Your School District Without Compromising Your Child: A Field Guide for Getting Effective Services for Children with Special Needs

Erratum to: A Clinical Assessment Tool for Advanced Theory of Mind Performance in 5 to 12 Year Olds

Personal Pronouns and Communicative Engagement in Autism

Evaluation of the Efficacy of a Dental Plaque Control Program in Autistic Patients