Dataset Information

Correlation between sperm mitochondrial ND5 and ND6 gene variations and total fertilisation failure.

ABSTRACT: Introduction:The purpose of this study was to investigate the correlation between sperm mitochondrial NADH dehydrogenase subunit 5 (ND5) and NADH dehydrogenase subunit 6 (ND6) gene variations and total fertilisation failure (TFF). Material and methods:A total of 232 sperm samples at the fresh in vitro fertilisation (IVF) cycle or the half-intracytoplasmic sperm injection (ICSI) cycle were collected for this retrospective controlled study on Han Chinese people between July 2011 and April 2014. Of the 232 total samples, 45 were from the IVF-TFF group and 187 were from couples with normal fertilisation (fertilisation rate > 50%). The mitochondrial ND5 and ND6 gene variations and sperm haplotypes were confirmed using nested PCR and DNA sequencing. Results:Ten homozygous variations were newly discovered, namely C12417T, T12441A, C12543A, C13650A, C13765A, T13769C, C13775T, A13776G, C13785A and C13845T. The gene variation rates of six sites, C12417T, C13650A, C13765A, T13769C, C13785A and C13845T, in the TFF group were significantly higher than those in the control group (p < 0.05). There were 231 heterozygous variations discovered; however, only nine heterozygous sites (12441, 12561, 12735, 13164, 13743, 13812, 13928, 14172 and 14368) had significantly higher gene variation rates than those in the control group (p < 0.05). In addition, the results showed that haplogroup C did not affect TFF (p > 0.05), and the fertilisation failure rates of haplogroup R and haplogroup D4a were both higher than those in the control group (p < 0.05). Conclusions:Our results suggested that the ND5 and ND6 gene variations are correlated with TFF. Furthermore, this study indicated that haplogroup R and haplogroup D4a might be risk factors for TFF.

SUBMITTER: Mao GH

PROVIDER: S-EPMC7212212 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

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Correlation between sperm mitochondrial ND5 and ND6 gene variations and total fertilisation failure.

Mao Gen-Hong GH Huang Xiao-Hui XH Geng Xu-Jing XJ Li Qian Q Zhang Yu Y Dou Qian Q

Archives of medical science : AMS 20200425 3

<h4>Introduction</h4>The purpose of this study was to investigate the correlation between sperm mitochondrial NADH dehydrogenase subunit 5 (ND5) and NADH dehydrogenase subunit 6 (ND6) gene variations and total fertilisation failure (TFF).<h4>Material and methods</h4>A total of 232 sperm samples at the fresh in vitro fertilisation (IVF) cycle or the half-intracytoplasmic sperm injection (ICSI) cycle were collected for this retrospective controlled study on Han Chinese people between July 2011 and ...[more]

PMID: 32399119

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Project description:Fish of the suborder Notothenioidei have successfully radiated into the Southern Ocean and today comprise the dominant fish sub-order in Antarctic waters in terms of biomass and species abundance. During evolution in the cold and stable Antarctic climate, the Antarctic lineage of notothenioids developed several unique physiological adaptations, which make them extremely vulnerable to the rapid warming of Antarctic waters currently observed. Only recently, a further phenomenon exclusive to notothenioid fish was reported: the translocation of the mitochondrial gene encoding the NADH Dehydrogenase subunit 6 (ND6), an indispensable part of complex I in the mitochondrial electron transport system.This study investigated the potential physiological consequences of ND6 translocation for the function and thermal sensitivity of the electron transport system in isolated liver mitochondria of the two nototheniid species Notothenia coriiceps and Notothenia rossii, with special attention to the contributions of complex I (NADH DH) and complex II (Succinate DH) to oxidative phosphorylation. Furthermore, enzymatic activities of NADH:Cytochrome c Oxidoreductase and Cytochrome C Oxidase were measured in membrane-enriched tissue extracts.During acute thermal challenge (0-15°C), capacities of mitochondrial respiration and enzymatic function in the liver could only be increased until 9°C. Mitochondrial complex I (NADH Dehydrogenase) was fully functional but displayed a higher thermal sensitivity than the other complexes of the electron transport system, which may specifically result from its unique amino acid composition, revealing a lower degree of stability in notothenioids in general. We interpret the translocation of ND6 as functionally neutral but the change in amino acid sequence as adaptive and supportive of cold stenothermy in Antarctic nototheniids. From these findings, an enhanced sensitivity to ocean warming can be deduced for Antarctic notothenioid fish.

Project description:ProAKAP4 is synthetized as a precursor polypeptide that must be converted into mature AKAP4 in living spermatozoa and is considered as a functional marker of spermatozoa. The gene is well-conserved in mammals although uncharacterized in Camelidae. In the present study, we investigate the expression metabolism of proAKAP4 and AKAP4 proteins and evaluate their seasonal dynamics relative to semen quality in dromedary camels. Semen parameters including volume and viscosity and characteristics of sperm including concentration, total production, total and progressive motility, vitality, acrosome integrity and morphological abnormalities were assessed in semen samples collected weekly from six camels during the rutting season, from November to April. Only total sperm production varied, peaking in January. Both the precursor proAKAP4 and AKAP4 proteins were investigated and shown to express biochemical properties similar to those described in other mammals. ProAKAP4 concentrations expressed in ng/10 million spermatozoa as assayed using a specific ELISA showed a strong positive correlation with ejaculate volume (P = 0.045), viscosity (P < 0.001) and sperm total motility (P = 0.049). Furthermore, their concentrations exhibited clear seasonal variations in camel semen. In conclusion, the assessment of proAKAP4 concentrations in camel sperm provides a novel parameter to assess sperm quality. Further studies should be performed to investigate proAKAP4 concentrations relative to fertility in Camelidae that may help to define the right time for mating and semen collection and increase the success of breeding programs.Lay summaryBreeding related to the seasons/time of year in the camel has been reported in several studies. A better knowledge of semen quality during the breeding season would assist in determining the best period for mating in camels. However, conventional sperm parameters are held to be unsatisfactory because they cannot predict breeding potential. ProAKAP4 a sperm-specific protein has been described as a functional marker of sperm and a key fertility marker in several species but has not been described in camels. Motility or membrane integrity parameters of semen collected throughout the breeding season and also the presence of proAKAP4 protein were investigated. ProAKAP4 was identified for the first time in camels and their concentrations exhibited clear seasonal variations in camel semen showing strong correlations with ejaculate volume and total motility and viscosity. Further studies should be performed to investigate proAKAP4 concentrations relative to fertility in camels to define the right time for mating and increase the success of breeding programs.

Dataset Information

Correlation between sperm mitochondrial ND5 and ND6 gene variations and total fertilisation failure.

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Correlation between sperm mitochondrial ND5 and ND6 gene variations and total fertilisation failure.

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