- 作者: Kuang-Wen Tseng; Mei-Lin Peng; Yang-Cheng Wen; Kang-Jen Liu; Chung-Liang Chien
- 作者服務機構: School of Optometry, College of Medical Sciences and Technology, Chung Shan Medical University, Taiwan, R.O.C.
- 中文摘要: --
- 英文摘要:
Background: Dystonia musculorum (dt) is an autosomal recessive hereditary
neuropathy with a characteristic uncoordinated movement and is caused by a defect in
the bullous pemphigoid antigen 1 (BPAG1) gene. The neural isoform of BPAG1 is
expressed in various neurons, including those in the central and peripheral nerve
systems of mice. However, most previous studies on neuronal degeneration in
BPAG1-deficient mice focused on peripheral sensory neurons and only limited
investigation of the autonomic system has been conducted.
Methods: In this study, patterns of nerve innervation in cutaneous and iridial tissues
were examined using general neuronal marker protein gene product 9.5 via
immunohistochemistry. To perform quantitative analysis of the autonomic neuronal
number, neurons within the lumbar sympathetic and parasympathetic ciliary ganglia
were calculated. In addition, autonomic neurons were cultured from embryonic dt/dt
mutants to elucidate degenerative patterns in vitro. Distribution patterns of neuronal
intermediate filaments in cultured autonomic neurons were thoroughly studied under
immunocytochemistry and conventional electron microscopy.
Results: Our immunohistochemistry results indicate that peripheral sensory nerves
and autonomic innervation of sweat glands and irises dominated degeneration in dt/dt
mice. Quantitative results confirmed that the number of neurons was significantly
decreased in the lumbar sympathetic ganglia as well as in the parasympathetic ciliary
ganglia of dt/dt mice compared with those of wild-type mice. We also observed that the neuronal intermediate filaments were aggregated abnormally in cultured
autonomic neurons from dt/dt embryos.
Conclusions: These results suggest that a deficiency in the cytoskeletal linker BPAG1
is responsible for dominant sensory nerve degeneration and severe autonomic
degeneration in dt/dt mice. Additionally, abnormally aggregated neuronal
intermediate filaments may participate in neuronal death of cultured autonomic
neurons from dt/dt mutants. - 中文關鍵字: --
- 英文關鍵字: --