The establishment of left–right asymmetry is a fundamental process in animal development.Interference with this process leads to a range of disorders collectively known as laterality defects,which manifest as abnorma...The establishment of left–right asymmetry is a fundamental process in animal development.Interference with this process leads to a range of disorders collectively known as laterality defects,which manifest as abnormal arrangements of visceral organs.Among patients with laterality defects,congenital heart diseases(CHD)are prevalent.Through multiple model organisms,extant research has established that myosin-Id(MYO1D)deficiency causes laterality defects.This study investigated over a hundred cases and identified a novel biallelic variant of MYO1D(NM_015194:c.1531G>A;p.D511N)in a consanguineous family with complex CHD and laterality defects.Further examination of the proband revealed asthenoteratozoospermia and shortened sperm.Afterward,the effects of the D511N variant and another known MYO1D variant(NM_015194:c.2293C>T;p.P765S)were assessed.The assessment showed that both enhance the interaction withβ-actin and SPAG6.Overall,this study revealed the genetic heterogeneity of this rare disease and found that MYO1D variants are correlated with laterality defects and CHD in humans.Furthermore,this research established a connection between sperm defects and MYO1D variants.It offers guidance for exploring infertility and reproductive health concerns.The findings provide a critical basis for advancing personalized medicine and genetic counseling.展开更多
In the course to find a stimulating compound for melanin biosynthesis, which should be useful for a gray and a white hair-preventive agent or tanning agent, we evaluated the effects of the methanol extract from mushro...In the course to find a stimulating compound for melanin biosynthesis, which should be useful for a gray and a white hair-preventive agent or tanning agent, we evaluated the effects of the methanol extract from mushroom of Pleurotus citrinopileatus on melanin production in B16 melanoma cells without theophylline. Activity-guided fractionation led to isolate myo-inositol (3) and D-mannitol (4) as the stimulating compounds on melanin production in B16 melanoma cells. Also, ergosterol (1), uracil (2), and D-glucose (5) have been isolated from the methanol extract of P. citrinopileatus and showed no effect on melanin production in B16 melanoma cells. These results indicated that myo-inositol (3) and D-mannitol (4) are potential candidates that could be useful such as a gray and a white hair-preventive agent or tanning agent.展开更多
目的:研究按摩对兔股四头肌损伤成肌调节因子Myf5 m RNA和Myo D m RNA的影响,探讨按摩促进肌纤维再生的作用机理。方法:将健康成年新西兰大白兔42只,体质量(2.0±0.5)kg,随机分为4组,正常组(A组,n=3)、损伤组(B组,n=3)、按摩组(C组,...目的:研究按摩对兔股四头肌损伤成肌调节因子Myf5 m RNA和Myo D m RNA的影响,探讨按摩促进肌纤维再生的作用机理。方法:将健康成年新西兰大白兔42只,体质量(2.0±0.5)kg,随机分为4组,正常组(A组,n=3)、损伤组(B组,n=3)、按摩组(C组,n=18)和自然恢复组(D组,n=18)。A组实验动物不作任何处理,作为正常对照;用重物打击法将B、C、D 3组实验兔左后肢股四头肌进行损伤造模。C组于造模后第4天开始按摩,按摩器转速2 600 r/min,按摩时间15 min,每天1次;D组不予按摩。C、D组于损伤第5天及第10天各取9只实验动物取股四头肌样本,进行HE染色观察组织的病理变化,并采用real-time PCR检测各组Myf5 m RNA和Myo D m RNA的相对表达量,与A、B 2组股四头肌标本进行比较。结果:成肌调节因子Myf5 m RNA的表达,A、B组分别为(7.82±0.19)、(4.99±0.17),损伤第5天C、D组分别为(5.28±0.15)、(5.78±0.04),损伤第10天C、D组分别为(5.95±0.16)、(6.26±0.26),C、D组相比,差异有统计学意义(P<0.01);Myo D m RNA的表达,A、B组分别为(14.94±0.12)、(12.12±0.03),损伤第5天C、D组分别为(12.52±0.12)、(12.88±0.14),损伤第10天C、D组分别为(13.28±0.02)、(13.81±0.17),C、D组相比,差异有统计学意义(P<0.01);HE染色显示,C组充血、水肿减轻,与D组相比,肌纤维排列较整齐,直径增粗。结论:按摩能够促进兔损伤股四头肌肌胶原纤维合成,利于损伤组织的修复,其机理可能是通过促进成肌调节因子Myf5m RNA和Myo D m RNA的表达有关。展开更多
基金supported by the National Natural Science Foundation of China(No.81970268)the Natural Science Foundation of Hunan Province(No.2023JJ30781)the Graduate Student Scientific Research Innovation Project of Hunan Province(No.CX20220315).
文摘The establishment of left–right asymmetry is a fundamental process in animal development.Interference with this process leads to a range of disorders collectively known as laterality defects,which manifest as abnormal arrangements of visceral organs.Among patients with laterality defects,congenital heart diseases(CHD)are prevalent.Through multiple model organisms,extant research has established that myosin-Id(MYO1D)deficiency causes laterality defects.This study investigated over a hundred cases and identified a novel biallelic variant of MYO1D(NM_015194:c.1531G>A;p.D511N)in a consanguineous family with complex CHD and laterality defects.Further examination of the proband revealed asthenoteratozoospermia and shortened sperm.Afterward,the effects of the D511N variant and another known MYO1D variant(NM_015194:c.2293C>T;p.P765S)were assessed.The assessment showed that both enhance the interaction withβ-actin and SPAG6.Overall,this study revealed the genetic heterogeneity of this rare disease and found that MYO1D variants are correlated with laterality defects and CHD in humans.Furthermore,this research established a connection between sperm defects and MYO1D variants.It offers guidance for exploring infertility and reproductive health concerns.The findings provide a critical basis for advancing personalized medicine and genetic counseling.
文摘In the course to find a stimulating compound for melanin biosynthesis, which should be useful for a gray and a white hair-preventive agent or tanning agent, we evaluated the effects of the methanol extract from mushroom of Pleurotus citrinopileatus on melanin production in B16 melanoma cells without theophylline. Activity-guided fractionation led to isolate myo-inositol (3) and D-mannitol (4) as the stimulating compounds on melanin production in B16 melanoma cells. Also, ergosterol (1), uracil (2), and D-glucose (5) have been isolated from the methanol extract of P. citrinopileatus and showed no effect on melanin production in B16 melanoma cells. These results indicated that myo-inositol (3) and D-mannitol (4) are potential candidates that could be useful such as a gray and a white hair-preventive agent or tanning agent.
文摘目的:研究按摩对兔股四头肌损伤成肌调节因子Myf5 m RNA和Myo D m RNA的影响,探讨按摩促进肌纤维再生的作用机理。方法:将健康成年新西兰大白兔42只,体质量(2.0±0.5)kg,随机分为4组,正常组(A组,n=3)、损伤组(B组,n=3)、按摩组(C组,n=18)和自然恢复组(D组,n=18)。A组实验动物不作任何处理,作为正常对照;用重物打击法将B、C、D 3组实验兔左后肢股四头肌进行损伤造模。C组于造模后第4天开始按摩,按摩器转速2 600 r/min,按摩时间15 min,每天1次;D组不予按摩。C、D组于损伤第5天及第10天各取9只实验动物取股四头肌样本,进行HE染色观察组织的病理变化,并采用real-time PCR检测各组Myf5 m RNA和Myo D m RNA的相对表达量,与A、B 2组股四头肌标本进行比较。结果:成肌调节因子Myf5 m RNA的表达,A、B组分别为(7.82±0.19)、(4.99±0.17),损伤第5天C、D组分别为(5.28±0.15)、(5.78±0.04),损伤第10天C、D组分别为(5.95±0.16)、(6.26±0.26),C、D组相比,差异有统计学意义(P<0.01);Myo D m RNA的表达,A、B组分别为(14.94±0.12)、(12.12±0.03),损伤第5天C、D组分别为(12.52±0.12)、(12.88±0.14),损伤第10天C、D组分别为(13.28±0.02)、(13.81±0.17),C、D组相比,差异有统计学意义(P<0.01);HE染色显示,C组充血、水肿减轻,与D组相比,肌纤维排列较整齐,直径增粗。结论:按摩能够促进兔损伤股四头肌肌胶原纤维合成,利于损伤组织的修复,其机理可能是通过促进成肌调节因子Myf5m RNA和Myo D m RNA的表达有关。
