| 1 | Hum. Mutat. 2008 Jul 29: 891-902 |
|---|---|
| PMID | 18444257 |
| Title | Mutations in human monoamine-related neurotransmitter pathway genes. |
| Abstract | Biosynthesis and metabolism of serotonin and catecholamines involve at least eight individual enzymes that are mainly expressed in tissues derived from the neuroectoderm, e.g., the central nervous system (CNS), pineal gland, adrenal medulla, enterochromaffin tissue, sympathetic nerves, and ganglia. Some of the enzymes appear to have additional biological functions and are also expressed in the heart and various other internal organs. The biosynthetic enzymes are tyrosine hydroxylase (TH), tryptophan hydroxylases type 1 and 2 (TPH1, TPH2), aromatic amino acid decarboxylase (AADC), dopamine beta-hydroxylase (DbetaH), and phenylethanolamine N-methyltransferase (PNMT), and the specific catabolic enzymes are monoamine oxidase A (MAO-A) and catechol O-methyltransferase (COMT). For the TH, DDC, DBH, and MAOA genes, many single nucleotide polymorphisms (SNPs) with unknown function, and small but increasing numbers of cases with autosomal recessive mutations have been recognized. For the remaining genes (TPH1, TPH2,PNMT, and COMT) several different genetic markers have been suggested to be associated with regulation of mood, pain perception, and aggression, as well as psychiatric disturbances such asschizophrenia、抑郁、自杀倾向,attention deficit/hyperactivity disorder. The genetic markers may either have a functional role of their own, or be closely linked to other unknown functional variants. In the future, molecular testing may become important for the diagnosis of such conditions. Here we present an overview on mutations and polymorphisms in the group of genes encoding monoamine neurotransmitter metabolizing enzymes. At the same time we propose a unified nomenclature for the nucleic acid aberrations in these genes. New variations or details on mutations will be updated in the Pediatric Neurotransmitter Disorder Data Base (PNDDB) database (www.bioPKU.org). |
| SCZ Keywords | schizophrenia, schizophrenic, schizophrenics |
| 2 | Leg Med (Tokyo) 2009 Apr 11 Suppl 1: S165-7 |
| PMID | 19282221 |
| Title | A study of monoamine neuronal systems of schizophrenic patients: using forensic autopsy brains. |
| Abstract | Studies on autopsy brains of mental illnesses are essential for psychiatric research. Brain materials from forensic autopsy cases have been valuable research resource. We introduced some characteristic neuronal structures ofschizophrenicpost-mortem brains and normal controls detected using both forensic and pathological autopsy cases and immunohistochemical method. Dopamine-related neuronal structures inschizophreniccases were investigated by using immunohistochemistry for tyrosine hydroxylase (TH), aromatic L-amino acid decarboxylase (AADC) and phenylethanolamine-N-methyltransferase (PNMT). At the level of the striatum, the number of AADC-positive, but TH-negative neurons (D-neurons) reduced inschizophrenics compared with controls. In the brainstem structures, we described some morphological findings characteristic to catecholaminergic neurons of the ventral tegmental area ofschizophreniccases and reduction of the number of medullary catecholaminergic neurons. These results might be in accordance with recent reports describing neural stem cell dysfunction inschizophrenicbrains. The authors also introduced the first systematic psychiatric brain bank in Japan, the Fukushima Psychiatric Brain Bank, constructed in 1997, and mentioned the necessity for arrangement of brain bank systems to further promote the psychiatric brain research. |
| SCZ Keywords | schizophrenia, schizophrenic, schizophrenics |
| 3 | Leg Med (Tokyo) 2009 Apr 11 Suppl 1: S165-7 |
| PMID | 19282221 |
| Title | A study of monoamine neuronal systems of schizophrenic patients: using forensic autopsy brains. |
| Abstract | Studies on autopsy brains of mental illnesses are essential for psychiatric research. Brain materials from forensic autopsy cases have been valuable research resource. We introduced some characteristic neuronal structures ofschizophrenicpost-mortem brains and normal controls detected using both forensic and pathological autopsy cases and immunohistochemical method. Dopamine-related neuronal structures inschizophreniccases were investigated by using immunohistochemistry for tyrosine hydroxylase (TH), aromatic L-amino acid decarboxylase (AADC) and phenylethanolamine-N-methyltransferase (PNMT). At the level of the striatum, the number of AADC-positive, but TH-negative neurons (D-neurons) reduced inschizophrenics compared with controls. In the brainstem structures, we described some morphological findings characteristic to catecholaminergic neurons of the ventral tegmental area ofschizophreniccases and reduction of the number of medullary catecholaminergic neurons. These results might be in accordance with recent reports describing neural stem cell dysfunction inschizophrenicbrains. The authors also introduced the first systematic psychiatric brain bank in Japan, the Fukushima Psychiatric Brain Bank, constructed in 1997, and mentioned the necessity for arrangement of brain bank systems to further promote the psychiatric brain research. |
| SCZ Keywords | schizophrenia, schizophrenic, schizophrenics |