Aromatic l-amino acid decarboxylase (AADC) enzymatic activity is essential for the biosynthesis of the serotonin and dopamine neurotransmitters, and AADC activity is functionally associated with a number of human neuronal disorders. Here we describe the molecular characterization of AADC from the pig. Pig AADC shows a high degree of similarity to human and rodent AADC at the cDNA and protein level. Exon position shuffling has exchanged the location of the stop codon in pig AADC to the last exon 15 instead for the exon 14 position in the human, the rat, and the mouse AADC. Several pig AADC isoforms were identified, including the also in human described extraneuronal and neuronal isoforms generated by alternative splicing and alternative promoter usage. The AADC expression in the developing pig brain is highly expressed in the basal ganglia and the brain stem regions, and also significantly expressed in the cortex, the hippocampus and the cerebellum. Moreover, we observe that both the neuronal and the extraneuronal AADC mRNA isoforms were present at early brain developmental stages in the brain stem and the basal ganglia. This presents the first evidence that the non-neuronal AADC isoform also is expressed in the brain. Together our results propose that the porcine model is useful for future functional delineations of the AADC gene at the molecular level.
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http://dx.doi.org/10.1016/j.brainres.2009.10.051 | DOI Listing |
Ecotoxicol Environ Saf
November 2024
College of Veterinary Medicine, Hunan Agricultural University, Changsha 410125, China. Electronic address:
The T-2 toxin is a frequent contaminant in the global environment and agricultural production. Existing evidence suggests that the ingested T-2 toxin can enter the brain and exhibit neurotoxicity. However, it is still unknown whether T-2 toxin causes the depression-like behaviors.
View Article and Find Full Text PDFInt J Mol Sci
November 2024
Department of Premedicine, College of Medicine, Hanyang University, FTC12, 222 Wangsimni-ro, Seoul 04763, Republic of Korea.
Orthopadie (Heidelb)
December 2024
Abteilung für Kinderorthopädie und Fußchirurgie, Orthopädisches Spital Speising, Speisinger Str. 109, 1130, Wien, Österreich.
Achondroplasia is the most common skeletal dysplasia. With the development of new growth-promoting drug treatment for children and adolescents with achondroplasia, multidisciplinary care has become increasingly more important. In addition to orthopedic care, a specialized team comprised of pediatrics/endocrinology, radiology, neurosurgery, otorhinolaryngology, anesthesiology, physiotherapy, psychology and other disciplines is necessary to develop and implement a holistic concept to improve the quality of life for individuals affected by achondroplasia.
View Article and Find Full Text PDFAppl Microbiol Biotechnol
October 2024
Genetics of Prokaryotes, Faculty of Biology and CeBiTec, Bielefeld University, Universitätsstr. 25, 33615, Bielefeld, Germany.
Aromatic l-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive disorder that results in a lack of the monoamine neurotransmitters dopamine, serotonin, norepinephrine, and epinephrine. Patients present with a wide spectrum of symptoms, including motor and autonomic dysfunction, hypotonia, and developmental delay, often before the age of one. Until recently, treatment options were limited to symptom control, but the recent approval of the first gene therapy for AADC deficiency in Europe and the UK has provided an alternative to treating symptoms for this disease.
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