Globozoospermia is a human infertility syndrome caused by spermatogenesis defects （OMIM 102530）. Acrosome plays an important role at the site of sperm-zonapellucida binding during the fertilization process. Thus, ma...Globozoospermia is a human infertility syndrome caused by spermatogenesis defects （OMIM 102530）. Acrosome plays an important role at the site of sperm-zonapellucida binding during the fertilization process. Thus, malformation of the acrosome is the most prominent feature seen in globozoospermia. Disruption of several mouse genes, including Gopc （Golgi-associated PDZ and coiled-coil motif containing protein）, Hrb （HIV-I Rev binding protein）, Csnk2α2 （casein kinase 2, α prime polypeptide） and Pick1 （protein interacting with C kinase 1）, results in a phenotype similar to globozoospermia in humans, which suggests their potential role in the disease. However, no mutations with a clear link to globozoospermia have been identified in these genes in humans. In this study, we screened the candidate genes men- tioned above in three globozoospermia type I patients and discovered a homozygous missense mutation （G198A） in exon 13 of the PICK1 gene in a Chinese family. The family member affected by this homozygous missense mutation showed a complete lack of acrosome. Using the candidate gene screening strategy, our study is the first to identify an autosomal recessive genetic mutation in PICK1 that was responsible for globozoospermia in humans.展开更多
Background：Generally,intracytoplasmic sperm injection （ICSI） may be the preferable method to treat partial globozoospermia,but whether there exist some correlations between ICSI fertilization rate and the proportio...Background：Generally,intracytoplasmic sperm injection （ICSI） may be the preferable method to treat partial globozoospermia,but whether there exist some correlations between ICSI fertilization rate and the proportion of round-headed sperm or morphologically normal sperm remains open.This study was to explore the correlation between ICSI fertilization rate and the sperm morphology in patients with partial globozoospermia.Methods：Thirty-four patients diagnosed with partial globozoospermia accepted the following assisted fertilization treatments-2 cases accepted in-vitro fertilization （IvF） alone,26 cases accepted ICSI alone,and 6 accepted split IVF/ICSI.Detailed morphological characteristics were described using Diff-Quik rapid staining.Sixty cases accepting IVF or ICSI treatment in our reproductive center were considered as the control group after being matched by relevant criteria.Fertilization rate,embryo quality,embryo implantation rate and clinical pregnancy rate were calculated.Results：Besides very high proportion of round-headed sperm,partial globozoospermia also showed very high proportion of small-acrosomal sperm and very low proportion of morphologically normal sperm.Fertilization rate of IVF （IVF alone plus split IVF） was very low in partial globozoospermia （25.4% ± 17.4%）,but ICSI （ICSI alone plus split ICSI） achieved satisfying fertilization rate compared with the control group （66.2% ± 22.5% vs.68.8% ± 29.4%,P 〉 0.05）.In patients with partial globozoospermia,there were no correlations between ICSI fertilization rate and the proportion of round-headed sperm,small-acrosomal sperm,or morphologically normal sperm.Conclusions：There was high proportion of small-acrosomal sperm in partial globozoospermia.For patients with partial globozoospermia,ICSI is more preferable than IVF.ICSI fertilization rate does not depend on the proportion of round-headed sperm,small-acrosomal sperm,or morphologically normal sperm.展开更多
目的:分析部分型圆头精子症患者精液常规参数及精子形态。方法:选取2013年1月至2016年5月100例部分型圆头精子症患者作为病例组,对照组为非圆头精子症的不育患者180例。根据精液中圆头精子所占比例不同将病例组分成5组:1组(25%~40%)、2...目的:分析部分型圆头精子症患者精液常规参数及精子形态。方法:选取2013年1月至2016年5月100例部分型圆头精子症患者作为病例组,对照组为非圆头精子症的不育患者180例。根据精液中圆头精子所占比例不同将病例组分成5组:1组(25%~40%)、2组(41%~55%)、3组(56%~70%)、4组(71%~85%)、5组(86%~99%),根据WHO《人类精液检查与处理实验室手册》第5版标准对其进行精液常规分析,包括精子浓度、活动率、前向运动精子百分率,及对不同畸形精子进行计数并计算畸形精子指数(TZI)及精子畸形指数(SDI)。结果:病例组与对照组的精子活动率[(35.76±24.88)%vs(62.03±10.20)%]、前向运动精子百分率[(26.11±20.39)%vs(45.62±6.87)%]、正常形态精子百分率[(1.45±1.45)%vs(5.98±2.21)%]和SDI(1.33±0.11 vs1.27±0.57)相比差异均有统计学意义(P均<0.01),两组年龄[(29.82±4.90)岁vs(30.33±3.59)岁]、精子浓度[(46.01±40.38)×10~6/ml vs(54.00±25.15)×10~6/ml]和TZI(1.35±0.11 vs 1.34±0.54)比较差异均无统计学意义(P均>0.05);病例组各组精子活动率、前向运动精子百分率、正常形态精子百分率、TZI和SDI均有统计学差异(P均<0.01),而年龄和精子浓度均无统计学差异(P均>0.05)。随着圆头精子比例的升高,精子头部形态由异质性偏向于均一性。结论:精液中不同比例的圆头精子与精液常规参数和形态学指标密切相关,可对不育患者辅助生殖技术的选择和受精率的预测起一定的提示作用。展开更多
Globozoospermia is a severe form of teratozoospermia characterized by round-headed spermatozoa with an absent acrosome, an aberrant nuclear membrane and midpiece defects. Globozoospermia is diagnosed by the presence o...Globozoospermia is a severe form of teratozoospermia characterized by round-headed spermatozoa with an absent acrosome, an aberrant nuclear membrane and midpiece defects. Globozoospermia is diagnosed by the presence of 100% round-headed spermatozoa on semen analysis, and patients with this condition are absolutely infertile. The objective of this study was to investigate the differences in protein expression between human round- headed and normal spermatozoa. Two-dimensional （2-D） fluorescence difference gel electrophoresis （DIGE） coupled with mass spectrometry （MS） was used in this study. Over 61 protein spots were analysed in each paired normal/round-headed comparison, using DIGE technology along with an internal standard. In total, 35 protein spots identified by tandem mass spectrometry （MS/MS） exhibited significant changes （paired t-test, P 〈 0.05） in the expression level between normal and round-headed spermatozoa. A total of nine proteins were found to be upregulated and 26 proteins were found to be downregulated in round-headed spermatozoa compared with normal spermatozoa. The differentially expressed proteins that we identified may have important roles in a variety of cellular processes and structures, including spermatogenesis, cell skeleton, metabolism and spermatozoa motility.展开更多
文摘Globozoospermia is a human infertility syndrome caused by spermatogenesis defects （OMIM 102530）. Acrosome plays an important role at the site of sperm-zonapellucida binding during the fertilization process. Thus, malformation of the acrosome is the most prominent feature seen in globozoospermia. Disruption of several mouse genes, including Gopc （Golgi-associated PDZ and coiled-coil motif containing protein）, Hrb （HIV-I Rev binding protein）, Csnk2α2 （casein kinase 2, α prime polypeptide） and Pick1 （protein interacting with C kinase 1）, results in a phenotype similar to globozoospermia in humans, which suggests their potential role in the disease. However, no mutations with a clear link to globozoospermia have been identified in these genes in humans. In this study, we screened the candidate genes men- tioned above in three globozoospermia type I patients and discovered a homozygous missense mutation （G198A） in exon 13 of the PICK1 gene in a Chinese family. The family member affected by this homozygous missense mutation showed a complete lack of acrosome. Using the candidate gene screening strategy, our study is the first to identify an autosomal recessive genetic mutation in PICK1 that was responsible for globozoospermia in humans.
文摘Background：Generally,intracytoplasmic sperm injection （ICSI） may be the preferable method to treat partial globozoospermia,but whether there exist some correlations between ICSI fertilization rate and the proportion of round-headed sperm or morphologically normal sperm remains open.This study was to explore the correlation between ICSI fertilization rate and the sperm morphology in patients with partial globozoospermia.Methods：Thirty-four patients diagnosed with partial globozoospermia accepted the following assisted fertilization treatments-2 cases accepted in-vitro fertilization （IvF） alone,26 cases accepted ICSI alone,and 6 accepted split IVF/ICSI.Detailed morphological characteristics were described using Diff-Quik rapid staining.Sixty cases accepting IVF or ICSI treatment in our reproductive center were considered as the control group after being matched by relevant criteria.Fertilization rate,embryo quality,embryo implantation rate and clinical pregnancy rate were calculated.Results：Besides very high proportion of round-headed sperm,partial globozoospermia also showed very high proportion of small-acrosomal sperm and very low proportion of morphologically normal sperm.Fertilization rate of IVF （IVF alone plus split IVF） was very low in partial globozoospermia （25.4% ± 17.4%）,but ICSI （ICSI alone plus split ICSI） achieved satisfying fertilization rate compared with the control group （66.2% ± 22.5% vs.68.8% ± 29.4%,P 〉 0.05）.In patients with partial globozoospermia,there were no correlations between ICSI fertilization rate and the proportion of round-headed sperm,small-acrosomal sperm,or morphologically normal sperm.Conclusions：There was high proportion of small-acrosomal sperm in partial globozoospermia.For patients with partial globozoospermia,ICSI is more preferable than IVF.ICSI fertilization rate does not depend on the proportion of round-headed sperm,small-acrosomal sperm,or morphologically normal sperm.
文摘目的:分析部分型圆头精子症患者精液常规参数及精子形态。方法:选取2013年1月至2016年5月100例部分型圆头精子症患者作为病例组,对照组为非圆头精子症的不育患者180例。根据精液中圆头精子所占比例不同将病例组分成5组:1组(25%~40%)、2组(41%~55%)、3组(56%~70%)、4组(71%~85%)、5组(86%~99%),根据WHO《人类精液检查与处理实验室手册》第5版标准对其进行精液常规分析,包括精子浓度、活动率、前向运动精子百分率,及对不同畸形精子进行计数并计算畸形精子指数(TZI)及精子畸形指数(SDI)。结果:病例组与对照组的精子活动率[(35.76±24.88)%vs(62.03±10.20)%]、前向运动精子百分率[(26.11±20.39)%vs(45.62±6.87)%]、正常形态精子百分率[(1.45±1.45)%vs(5.98±2.21)%]和SDI(1.33±0.11 vs1.27±0.57)相比差异均有统计学意义(P均<0.01),两组年龄[(29.82±4.90)岁vs(30.33±3.59)岁]、精子浓度[(46.01±40.38)×10~6/ml vs(54.00±25.15)×10~6/ml]和TZI(1.35±0.11 vs 1.34±0.54)比较差异均无统计学意义(P均>0.05);病例组各组精子活动率、前向运动精子百分率、正常形态精子百分率、TZI和SDI均有统计学差异(P均<0.01),而年龄和精子浓度均无统计学差异(P均>0.05)。随着圆头精子比例的升高,精子头部形态由异质性偏向于均一性。结论:精液中不同比例的圆头精子与精液常规参数和形态学指标密切相关,可对不育患者辅助生殖技术的选择和受精率的预测起一定的提示作用。
基金Acknowledgment We thank Beijing Proteome Research Center, （Beijing, China） for its enthusiastic technological support and for the theory of 2-D DIGE. We also thank（Changsha, China） College of Life Sciences at Hunan Normal University for supporting the MS technology. Finally, we are very grateful to our collaborators for their help, as well as their valuable discussions and suggestions during the course of this work. This work was supported by two grants from the National Natural Science Foundation of China （NO. 30170480 and NO. 30470884）.
文摘Globozoospermia is a severe form of teratozoospermia characterized by round-headed spermatozoa with an absent acrosome, an aberrant nuclear membrane and midpiece defects. Globozoospermia is diagnosed by the presence of 100% round-headed spermatozoa on semen analysis, and patients with this condition are absolutely infertile. The objective of this study was to investigate the differences in protein expression between human round- headed and normal spermatozoa. Two-dimensional （2-D） fluorescence difference gel electrophoresis （DIGE） coupled with mass spectrometry （MS） was used in this study. Over 61 protein spots were analysed in each paired normal/round-headed comparison, using DIGE technology along with an internal standard. In total, 35 protein spots identified by tandem mass spectrometry （MS/MS） exhibited significant changes （paired t-test, P 〈 0.05） in the expression level between normal and round-headed spermatozoa. A total of nine proteins were found to be upregulated and 26 proteins were found to be downregulated in round-headed spermatozoa compared with normal spermatozoa. The differentially expressed proteins that we identified may have important roles in a variety of cellular processes and structures, including spermatogenesis, cell skeleton, metabolism and spermatozoa motility.
