γ -actin (ACTG1) gene is a cytoplasmic nonmuscle actin gene, which encodes a major cytoskeletal protein in the sensory hair cells of the cochlea. Mutations in ACTG1 were found to cause autosomal dominant, progressi...γ -actin (ACTG1) gene is a cytoplasmic nonmuscle actin gene, which encodes a major cytoskeletal protein in the sensory hair cells of the cochlea. Mutations in ACTG1 were found to cause autosomal dominant, progressive, sensorineural hearing loss linked to the DFNA 20/26 locus on chromosome 17q25.3 in European and American families, respectively. In this study, a novel missense mutation (c.364A〉G; p.I122V) co-segregated with the affected individuals in the family and did not exist in the unaffected family members and 150 unrelated normal controls. The alteration of residue Ile122 was predicted to damage its interaction with actin-binding proteins, which may cause disruption of hair cell organization and function. These findings strongly suggested that the I122V mutation in ACTG1 caused autosomal dominant non-syndromic hearing impairment in a Chinese family and expanded the spectrum of ACTG1 mutations causing hearing loss.展开更多
Background:Based on the theory of traditional Chinese medicine (TCM) and preepidemiological investigation,Professor Qi Wang classified the entire human population into nine constitutions and put forward the theory of ...Background:Based on the theory of traditional Chinese medicine (TCM) and preepidemiological investigation,Professor Qi Wang classified the entire human population into nine constitutions and put forward the theory of 'Nine-Constitution Medicine.' Among these constitutions,the main feature of the yang-deficiency constitution (YADC) is intolerance of the cold,which has been proven to reduce quality of life and confer susceptibility to specific diseases.Previous studies explored the genetic and transcriptional bases of YADC.In this experiment,we explored the potential mechanism of YADC using protein microarray,to deepen our understanding of its biological mechanism.Methods:Subjects identified with a YADC (n =12) or a balance constitution (BC;n =12) in accordance with the Classification and Determination Standards of Constitutions in Traditional Chinese Medicine were selected.Blood was collected to separate serum and protein microarray technology was used to analyze serum protein expression.Results:The clustering of subjects' constitutions based on protein expression profiling largely coincided with the TCM classification.Based on false discovery rate correction (P <.01) and fold change ≥ 5 or ≤ 0.2,a total of 85 proteins differentially expressed in YADC compared with their status in BC were selected,including 64 upregulated and 21 downregulated ones.Enrichment analysis suggested that subjects with YADC are susceptible to endocrine and energy metabolism disorders,as well as decline in immune function.Conclusion:This study revealed that YADC exhibits systematic differences in its protein expression profile.Moreover,we can potentially explain the characteristics of YADC partly via differentially expressed proteins.展开更多
基金the National Natural Science Foundation of China (No. 30670736 and 30500168)the Department of Science and Technology of Jiangsu Province (No. BS2006533).
文摘γ -actin (ACTG1) gene is a cytoplasmic nonmuscle actin gene, which encodes a major cytoskeletal protein in the sensory hair cells of the cochlea. Mutations in ACTG1 were found to cause autosomal dominant, progressive, sensorineural hearing loss linked to the DFNA 20/26 locus on chromosome 17q25.3 in European and American families, respectively. In this study, a novel missense mutation (c.364A〉G; p.I122V) co-segregated with the affected individuals in the family and did not exist in the unaffected family members and 150 unrelated normal controls. The alteration of residue Ile122 was predicted to damage its interaction with actin-binding proteins, which may cause disruption of hair cell organization and function. These findings strongly suggested that the I122V mutation in ACTG1 caused autosomal dominant non-syndromic hearing impairment in a Chinese family and expanded the spectrum of ACTG1 mutations causing hearing loss.
基金This study was supported by the National Natural Science Foundation of China:Surface Project(81373504)National Key Basic Research Program of China(973 Program)(2011CB505400).
文摘Background:Based on the theory of traditional Chinese medicine (TCM) and preepidemiological investigation,Professor Qi Wang classified the entire human population into nine constitutions and put forward the theory of 'Nine-Constitution Medicine.' Among these constitutions,the main feature of the yang-deficiency constitution (YADC) is intolerance of the cold,which has been proven to reduce quality of life and confer susceptibility to specific diseases.Previous studies explored the genetic and transcriptional bases of YADC.In this experiment,we explored the potential mechanism of YADC using protein microarray,to deepen our understanding of its biological mechanism.Methods:Subjects identified with a YADC (n =12) or a balance constitution (BC;n =12) in accordance with the Classification and Determination Standards of Constitutions in Traditional Chinese Medicine were selected.Blood was collected to separate serum and protein microarray technology was used to analyze serum protein expression.Results:The clustering of subjects' constitutions based on protein expression profiling largely coincided with the TCM classification.Based on false discovery rate correction (P <.01) and fold change ≥ 5 or ≤ 0.2,a total of 85 proteins differentially expressed in YADC compared with their status in BC were selected,including 64 upregulated and 21 downregulated ones.Enrichment analysis suggested that subjects with YADC are susceptible to endocrine and energy metabolism disorders,as well as decline in immune function.Conclusion:This study revealed that YADC exhibits systematic differences in its protein expression profile.Moreover,we can potentially explain the characteristics of YADC partly via differentially expressed proteins.