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Sökning: WFRF:(Vanhala Raija)

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1.
  • Leblond, Claire S, et al. (författare)
  • Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
  • 2012
  • Ingår i: PLoS Genetics. - : Public Library of Science (PLoS). - 1553-7390 .- 1553-7404. ; 8:2
  • Tidskriftsartikel (refereegranskat)abstract
    • Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders with a complex inheritance pattern. While many rare variants in synaptic proteins have been identified in patients with ASD, little is known about their effects at the synapse and their interactions with other genetic variations. Here, following the discovery of two de novo SHANK2 deletions by the Autism Genome Project, we identified a novel 421 kb de novo SHANK2 deletion in a patient with autism. We then sequenced SHANK2 in 455 patients with ASD and 431 controls and integrated these results with those reported by Berkel et al. 2010 (n=396 patients and n=659 controls). We observed a significant enrichment of variants affecting conserved amino acids in 29 of 851 (3.4%) patients and in 16 of 1,090 (1.5%) controls (P=0.004, OR=2.37, 95% CI=1.23-4.70). In neuronal cell cultures, the variants identified in patients were associated with a reduced synaptic density at dendrites compared to the variants only detected in controls (P=0.0013). Interestingly, the three patients with de novo SHANK2 deletions also carried inherited CNVs at 15q11-q13 previously associated with neuropsychiatric disorders. In two cases, the nicotinic receptor CHRNA7 was duplicated and in one case the synaptic translation repressor CYFIP1 was deleted. These results strengthen the role of synaptic gene dysfunction in ASD but also highlight the presence of putative modifier genes, which is in keeping with the "multiple hit model" for ASD. A better knowledge of these genetic interactions will be necessary to understand the complex inheritance pattern of ASD.
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2.
  • Vanhala, Raija, et al. (författare)
  • Neurotrophic factors in cerebrospinal fluid and serum of patients with Rett syndrome
  • 1998
  • Ingår i: Journal of Child Neurology. - Univ Helsinki, Hosp Children & Adolescents, Unit Child Neurol, Helsinki, Finland. Uppsala Univ, Ctr Biomed, Dept Dev Neurosci, Uppsala, Sweden. Univ Helsinki, Inst Biotechnol, Helsinki, Finland. Univ Kuopio, Childrens Hosp, Dept Child Neurol, FIN-70211 Kuopio, Finland. : Sage Publications. - 0883-0738 .- 1708-8283. ; 13:9, s. 429-433
  • Tidskriftsartikel (refereegranskat)abstract
    • Rett syndrome is now considered to be a neurodevelopmental disease. Its cause is unknown, but it has been suggested that neuronal growth factors and neurotransmitters play important roles. We measured levels of brain-derived neurotropic factor and glial cell line-derived neurotrophic factor in cerebrospinal fluid, and nerve growth factor and brain-derived neurotrophic factor in serum in child and adolescent patients with Rett syndrome. Levels of brain-derived neurotrophic factor and glial cell line-derived neurotrophic factor in cerebrospinal fluid were below the limit of sensitivity of the methods used. Serum levels of nerve growth factor and brain-derived neurotrophic factor did not differ from control values. In Rett syndrome, the normal serum levels of nerve growth factor together and previously reported low levels of the factor in cerebrospinal fluid indicate that the latter may reflect low levels of nerve growth factor in the central nervous system.
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