Expression characterization of MANF during course of rat adjuvant arthritis and its relationship with inflammation / 中国药理学通报

Aim To observe the expression of mesen-cephalic astrocyte-derived neurotrophic factor(MANF) in synovial membrane and serum of rats with adjuvant arthritis (AA) and to analyse the relationship between MANF expression and arthritis. Methods AA models were prepared by injecting Freund complete adjuvant (FCA) into SD rats. The swelling of the secondary joint was measured by foot volume measurement. The severity of AA was recorded by arthritis index (AI). Synovial pathological changes were observed by HE staining. The protein and mRNA levels of MANF,BiP and CHOP extracted from synovial tissues in different periods of AA rats were detected by Western blot and reverse transcription-polymerase chain reaction (RT-PCR), respectively. The levels of MANF, C-reactive protein (CRP), interleukin-1β (IL-1β) and tumor necrosis factor α (TNF-α) in serum were detected by enzyme-linked immunosorbent assay (ELISA) and then the relationship between MANF level and inflam-matory factors were explored. Results AA rat model was established successfully. The expression of BiP significantly increased in synovial tissue on d 2 after CFA injection,and decreased until d 28. The expres-sion of MANF slightly increased on d 2,then remained stable,and significantly increased on d 14, and then decreased gradually. The expression of CHOP kept to rise slowly at a low level. The level of MANF in serum markedly increased on d 14,then gradually decreased, but it was still higher than the normal level on d 28. The level of CRP exhibited similar trend with MANF. Correlation analysis showed that MANF had a negative correlation with arthritis symptoms, IL-1β and TNF-α in the secondary inflammatory period of AA rats. Con-clusions Arthritis induces the expression and secre-tion of MANF,and the level of MANF is closely relat-ed to the progression and severity of arthritis.

Identification of a novel mutation in the ATP2C1 gene in a Chinese pedigree with Hailey-Hailey disease / 中国医学科学院学报

<p><b>OBJECTIVE</b>To study a Chinese pedigree with Hailey-Hailey disease (HHD) and examine the ATP2C1 gene mutation in this family.</p><p><b>METHOD</b>All exons of ATP2C1 gene were analyzed with polymerase chain reaction and DNA sequencing in all patients of this family and 100 unrelated population-match controls.</p><p><b>RESULTS</b>We identified a novel heterozygous nucleotide A --> G transition at position 235 - 2 in intron 3 of ATP2C1 gene. This splice site mutation was not found in the healthy members of this pedigree and in the controls.</p><p><b>CONCLUSION</b>The splicing mutation can affect the result of transcription and translation, and it is a specific novel mutation of ATP2C1 gene.</p>

Genetical diagnosis in a family with X-linked hypohidrotic ectodermal dysplasia / 中国医学科学院学报

<p><b>OBJECTIVE</b>To identify the mutations of ED1 gene in a family with X-linked hypohidrotic ectodermal dysplasia</p><p><b>METHODS</b>Eight coding exons of ED1 gene of two patients with clinically confirmed X-linked hypohidrotic ectodermal dysplasia, their parents, and 100 unrelated population-matched control were amplified by polymerase chain reaction. The products were further analyzed by direct sequencing.</p><p><b>RESULTS</b>Two patients with X-linked hypohidrotic ectodermal dysplasia in this pedigree showed a point mutation at nucleotide 1 045 ( A > G) . Meanwhile, heterozygous double peaks of nucleotide G and A at the same position were found in their mother, but not in their father and 100 unrelated population-matched controls.</p><p><b>CONCLUSION</b>The c. 1 045A > G mutation of ED1 gene may be the pathologic cause of this Chinese family with X-linked hypohidrotic ectodermal dysplasia.</p>