Identification of a novel m.9588G > A missense mutation in the mitochondrial COIII gene in asthenozoospermic Tunisian infertile men
نویسندگان
چکیده
منابع مشابه
‘Infertile’ studies on mitochondrial DNA variation in asthenozoospermic Tunisian men
We reviewed five studies undertaken by the same research group on the possible links between mitochondrial DNA (mtDNA) variation and asthenozoospermia, all carried out on Tunisian men. A thorough assessment of these articles reveals that all five studies were carried out on virtually the same cohort of patients, although this information was concealed by the authors. Thus, the results were 'sli...
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Anophthalmia or microphthalmia (A/M) is a rare group of congenital/developmental ocular malformations, characterized by absent or small eye within the orbit affecting one or both eyes. It has complex etiology with chromosomal, monogenic with high heterogeneity, and environmental causes. We performed genome SNP-array analysis followed by autozygosity mapping and sequencing in the members o...
متن کاملA Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia
Congenital recessive myotonia is a rare genetic disorder caused by mutations in CLCN1, which codes for the main skeletal muscle chloride channel ClC-1. More than 120 mutations have been found in this gene. The main feature of this disorder is muscle membrane hyperexcitability. Here, we report a 59-year male patient suffering from congenital myotonia. He had transient generalized myotonia, which...
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Background: Varicocele is the abnormal tortuosity and dilatation of the veins of the pampiniform plexus within the spermatic cord. Varicocele-related pathology is suspected in infertility as it leads to elevated temperatures in the scrotum and testes, which has a deleterious effect on spermatogenesis. In Varicocele patients, ROS production is enhanced and total antioxidant capacity (TAC) is red...
متن کاملNovel Missense Mitochondrial ND4L Gene Mutations in Friedreich's Ataxia
Objective(s) The mitochondrial defects in Friedreich's ataxia have been reported in many researches. Mitochondrial DNA is one of the candidates for defects in mitochondrion, and complex I is the first and one of the largest catalytic complexes of oxidative phosphorylation (OXPHOS) system. Materials and Methods We searched the mitochondrial ND4L gene for mutations by TTGE and sequencing on 30...
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ژورنال
عنوان ژورنال: Journal of Assisted Reproduction and Genetics
سال: 2014
ISSN: 1058-0468,1573-7330
DOI: 10.1007/s10815-014-0187-2