Brief Report: High Frequency of Biochemical Markers for Mitochondrial Dysfunction in Autism: No Association with the Mitochondrial Aspartate/Glutamate Carrier SLC25A12 Gene
| العنوان: | Brief Report: High Frequency of Biochemical Markers for Mitochondrial Dysfunction in Autism: No Association with the Mitochondrial Aspartate/Glutamate Carrier SLC25A12 Gene |
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| المؤلفون: | Luís Borges, Assunção Ataíde, Joana Almeida, Astrid M. Vicente, Ana M. Coutinho, C.C. Marques, Manuela Grazina, Catarina R. Oliveira, Luísa Diogo, Guiomar Oliveira, Teresa S. Miguel, Catarina Correia |
| المصدر: | Journal of Autism and Developmental Disorders. 36:1137-1140 |
| بيانات النشر: | Springer Science and Business Media LLC, 2006. |
| سنة النشر: | 2006 |
| مصطلحات موضوعية: | medicine.medical_specialty, Mitochondrial Diseases, DNA Mutational Analysis, Gene Expression, Glutamic Acid, Mitochondrion, DNA, Mitochondrial, Mitochondrial Membrane Transport Proteins, Genetic determinism, Mitochondrial Proteins, Gene Frequency, Internal medicine, Pyruvic Acid, Developmental and Educational Psychology, medicine, Glutamate aspartate transporter, Humans, Lactic Acid, Autistic Disorder, Gene, DNA Primers, Aspartic Acid, biology, Metabolic disorder, Glutamate receptor, Chromosome Mapping, Membrane Transport Proteins, medicine.disease, Developmental disorder, Endocrinology, Haplotypes, biology.protein, Autism, Psychology |
| الوصف: | In the present study we confirm the previously reported high frequency of biochemical markers of mitochondrial dysfunction, namely hyperlactacidemia and increased lactate/pyruvate ratio, in a significant fraction of 210 autistic patients. We further examine the involvement of the mitochondrial aspartate/glutamate carrier gene (SLC25A12) in mitochondrial dysfunction associated with autism. We found no evidence of association of the SLC25A12 gene with lactate and lactate/pyruvate distributions or with autism in 241 nuclear families with one affected individual. We conclude that while mitochondrial dysfunction may be one of the most common medical conditions associated with autism, variation at the SLC25A12 gene does not explain the high frequency of mitochondrial dysfunction markers and is not associated with autism in this sample of autistic patients. |
| تدمد: | 1573-3432 0162-3257 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7427d68c09bc9705c9b2028b45bea94 https://doi.org/10.1007/s10803-006-0138-6 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....d7427d68c09bc9705c9b2028b45bea94 |
| قاعدة البيانات: | OpenAIRE |
Find this article in full text from Springer Verlag. | تدمد: | 15733432 01623257 |
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