Dear Editor,Solute carrier family 26 member 8(SLC26A8)gene belongs to the solute carrier 26(SLC26)family.It demonstrates distinct expression in male spermatozoa.This gene potentially plays a role in the formation of t...Dear Editor,Solute carrier family 26 member 8(SLC26A8)gene belongs to the solute carrier 26(SLC26)family.It demonstrates distinct expression in male spermatozoa.This gene potentially plays a role in the formation of the sperm annulus,a circular structure linking the midpiece and principal piece of mature sperm flagella.1 Studies in mice have shown that the deficiency of Slc26A8 leads to compromised sperm motility,capacitation,and structural anomalies.These include disarray in the mitochondrial sheath,abnormalities in the annulus,and bending of the flagella.2,3 Nevertheless,our comprehension of SLC26A8 mutations in male infertility is still restricted,with only a limited number of studies addressing this aspect.4-6 Therefore,further research is crucial to elucidate the functional significance of mutations in SLC26A8.展开更多
Background:Wilson's disease is an autosomal recessive disorder characterized by liver disease and/or neurologic deficits due to copper accumulation and is caused by pathogenic mutations in the ATP7B gene.Methods:T...Background:Wilson's disease is an autosomal recessive disorder characterized by liver disease and/or neurologic deficits due to copper accumulation and is caused by pathogenic mutations in the ATP7B gene.Methods:Two unrelated Chinese patients born to nonconsanguineous parents who were diagnosed with earlyonset Wiison's disease.DNA sequencing and bioinformation analysis were conducted.Results:We have identified four mutations in two family trios,of which two were novel,namely,c.3028A>G(p.K1010E) and c3992T>G (p.Y1331X),in each patient.Conclusions:Gene testing is playing an important role in diagnosis of Wilson's disease.The early-onset of Wilson's disease is apparently not associated with P-ATPase domain in the ATP7B protein.Our findings further widen the spectrum of mutations involving the ATP7B gene.展开更多
基金support from grants provided by the Gansu Provincial Natural Science Foundation of China(23JRRA1046)the Gansu Association for Science and Technology(GSHZTS 2022-04)the National College Student Innovation and Entrepreneurship Training Program(202310730222).
文摘Dear Editor,Solute carrier family 26 member 8(SLC26A8)gene belongs to the solute carrier 26(SLC26)family.It demonstrates distinct expression in male spermatozoa.This gene potentially plays a role in the formation of the sperm annulus,a circular structure linking the midpiece and principal piece of mature sperm flagella.1 Studies in mice have shown that the deficiency of Slc26A8 leads to compromised sperm motility,capacitation,and structural anomalies.These include disarray in the mitochondrial sheath,abnormalities in the annulus,and bending of the flagella.2,3 Nevertheless,our comprehension of SLC26A8 mutations in male infertility is still restricted,with only a limited number of studies addressing this aspect.4-6 Therefore,further research is crucial to elucidate the functional significance of mutations in SLC26A8.
基金This study was supported by grants from the Natural Science Foundation of China(30700845)the Fundamental Research Funds for the Central Universities(lzujbky-2012-173,lzujbky-2013-m04).
文摘Background:Wilson's disease is an autosomal recessive disorder characterized by liver disease and/or neurologic deficits due to copper accumulation and is caused by pathogenic mutations in the ATP7B gene.Methods:Two unrelated Chinese patients born to nonconsanguineous parents who were diagnosed with earlyonset Wiison's disease.DNA sequencing and bioinformation analysis were conducted.Results:We have identified four mutations in two family trios,of which two were novel,namely,c.3028A>G(p.K1010E) and c3992T>G (p.Y1331X),in each patient.Conclusions:Gene testing is playing an important role in diagnosis of Wilson's disease.The early-onset of Wilson's disease is apparently not associated with P-ATPase domain in the ATP7B protein.Our findings further widen the spectrum of mutations involving the ATP7B gene.
