Cerebellar neurodegeneration in human hereditary DNA repair disorders
Autor: | Toshihiko Kohji, Kimiko Tamagawa, Masao Minagawa, Kei Shioda, Masaya Oda, Yoshio Morimatsu, Masaharu Hayashi |
---|---|
Rok vydání: | 1998 |
Předmět: |
Adult
Male Cerebellum Pathology medicine.medical_specialty Xeroderma pigmentosum Adolescent DNA Repair Biotin Granular layer DNA Fragmentation Receptors Nerve Growth Factor Biology Cockayne syndrome Cerebellar Diseases Proto-Oncogene Proteins medicine Cerebellar Degeneration Humans Child Cockayne Syndrome Receptor Ciliary Neurotrophic Factor bcl-2-Associated X Protein Brain Chemistry Xeroderma Pigmentosum Staining and Labeling General Neuroscience Neurodegeneration Receptor Protein-Tyrosine Kinases medicine.disease medicine.anatomical_structure Neuroprotective Agents nervous system Proto-Oncogene Proteins c-bcl-2 Cerebellar cortex Trk receptor Nerve Degeneration Female Tumor Suppressor Protein p53 Deoxyuracil Nucleotides |
Zdroj: | Neuroscience letters. 243(1-3) |
ISSN: | 0304-3940 |
Popis: | Recent findings have focused attention on the role of apoptosis in neurodegenerative diseases, however, the apoptotic process in child-onset brain disorders has been little investigated. Xeroderma pigmentosum (XP) and Cockayne syndrome (CS) are hereditary disorders characterized by impaired DNA repair and neurodegeneration. We investigated apoptotic cell death in the cerebellum of five cases of XP group A (XPA), four cases of CS, and twelve controls, using TdT-mediated DIG-dUTP nick-end labeling (TUNEL) and immunohistochemical staining for bcl-2, bcl-x, p53, bax, BDNF and Trk B. The TUNEL-positive cells were found in the granule cells of the cerebellar cortex of two patients with XPA and two patients with CS, whereas such cells were not detected in the cerebellar cortex in controls. Upregulation of bcl-2 or BDNF was not observed, and bcl-x expression was not altered. Some patients showed nuclear expression of p53 in the granule cells and/or molecular layer, bax-positive glial cells in the cerebellar white matter, and a few Trk B-positive cells in the granular layer. These findings suggest that apoptotic cell death can be involved in the cerebellar degeneration in patients with hereditary defects in DNA repair mechanisms. |
Databáze: | OpenAIRE |
Externí odkaz: |
načítá se...