Publications by authors named "Seyedeh-Hanieh Hosseini"
Article Synopsis
- Non-obstructive azoospermia (NOA) from primary spermatogenic failure is a severe male infertility issue with limited treatment options, and genetic testing can help predict outcomes for procedures like testicular sperm extraction (TESE).
- A study using whole-genome sequencing on an Iranian family revealed a harmful variant in the TDRKH gene, which is crucial for male fertility; its absence leads to sperm production failures similar to findings in Tdrkh knockout mice.
- This research reinforces the importance of the piRNA pathway in spermatogenesis and indicates that men with TDRKH variants have a high likelihood of complete spermatogenic arrest, similar to previously studied North African cases.
Background: Infertile men with multiple morphological abnormalities of the sperm flagella (MMAF) phenotype exhibit mosaic sperm flagella abnormalities such as short, bent, coiled, and irregular flagella or absent flagella. Sperm flagellum has an ultrastructurally axonemal structure that contains a large number of proteins. A-Kinase Anchoring Protein 3 (AKAP3) is expressed in spermatozoa.
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- Sperm flagella and motile cilia share a similar microtubule structure, and issues with these structures can lead to male infertility, manifesting as isolated conditions or syndromes like Primary Cilia Dyskinesia (PCD).
- Two unrelated patients with multiple morphological abnormalities of sperm flagella (MMAF) were found to have distinct mutations in the PCD gene CCDC65, which leads to a significant decrease in its protein in sperm.
- This research demonstrates that CCDC65 is essential for sperm flagellum structure and suggests that mutations in this gene can cause asthenozoospermia, a condition characterized by reduced sperm motility.
Article Synopsis
- * Researchers discovered homozygous variants linked to the condition in four unrelated patients, which disrupted the localization of certain proteins essential for sperm flagellum function.
- * The study identified ZMYND12 as a new gene associated with asthenoteratozoospermia, which forms a complex with other proteins critical for sperm motility, affecting male fertility.
Article Synopsis
- Male infertility, specifically the MMAF phenotype, involves severe sperm flagellum defects linked to multiple genetic factors, with around 40 known associated genes.
- In a study of 167 MMAF patients, researchers identified new pathogenic mutations in the DNHD1 gene, previously recognized for its role in this condition, highlighting its crucial function for sperm flagellum structure.
- Advanced imaging techniques confirmed significant abnormalities in sperm cells from mutated patients, reinforcing the importance of understanding these genetic mutations for diagnosing unexplained cases of male infertility.
Article Synopsis
- Oligoasthenoteratozoospermia, a condition leading to male infertility characterized by sperm malformations, has only a few identified pathogenic genes.
- Two homozygous frameshift variants were discovered in patients from China and North Africa, leading to a typical phenotype with low sperm concentration and abnormal sperm flagella structure.
- The research indicates that these genetic mutations are critical for sperm flagella formation and are linked to male infertility in both humans and a created mouse model.
Intracytoplasmic sperm injection (ICSI) is increasingly used to treat male-factor infertility when sperm parameters are not proper for intrauterine insemination (IUI) or in vitro fertilization (IVF). Among sperm abnormalities, short tail sperm defect is a rare kind of teratozoospermia, which is a severe cause of male infertility. In this study, we evaluated the ICSI outcomes of infertile men with severely short tail sperm defect.
View Article and Find Full Text PDFCorrection to: A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet-Biedl syndrome.
Hum Genet
July 2021
A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet-Biedl syndrome.
Hum Genet
July 2021
Article Synopsis
- * A study involving 167 infertile men revealed a specific genetic variant in IFT74 that affects sperm flagellum structure, leading to multiple morphological abnormalities of the sperm flagellum (MMAF).
- * The mutation in IFT74 causes unique protein changes that result in primary male infertility, highlighting how different mutations can lead to distinct clinical outcomes within the broad spectrum of ciliopathies.
SEPT12 is a testis-specific gene involved in the terminal differentiation of male germ cells. SEPT12 protein is required for sperm head-tail formation and acts as a fundamental constituent of sperm tail annulus. In this study, we screened genetic variations in exons 5, 6, 7 of the SEPT12 and assessed the annulus status in teratozoospermic, globozoospermic, and patients with immotile short tail sperm.
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- Structural defects in sperm flagella lead to asthenozoospermia, a common issue in infertile men, particularly seen as "short tails" (MMAF).
- Research on 167 individuals with MMAF revealed that over 30% had harmful mutations, notably in the TTC29 gene, which is crucial for sperm flagellar function.
- Further studies in model organisms confirmed that TTC29 is vital for maintaining proper sperm flagellum structure and movement, linking its mutations to male infertility.
Teratozoospermia is characterised by the presence of spermatozoa with abnormal morphology. One of the morphological disorders that lead to male infertility is immotile short-tail sperm (ISTS) defect. In this study, we evaluated the levels of chromatin packing and DNA fragmentation in patients with immotile short-tail sperm defect.
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- Multiple morphological anomalies of the sperm flagella (MMAF syndrome) is a serious cause of male infertility linked to mutations in several genes that affect sperm flagellum structure.
- Research identified significant homozygous mutations in the QRICH2 gene, crucial for sperm flagellum development, in patients from two Chinese families and further analyzed a wider cohort to link QRICH2 to MMAF.
- Out of 167 affected individuals, 1% had homozygous loss-of-function variants confirming QRICH2's role, while 9.6% had heterozygous variants, suggesting these variants are common and not specifically linked to MMAF syndrome.
Article Synopsis
- Male infertility is a significant health issue, with multiple morphological abnormalities of the flagella (MMAF) being a severe form that causes asthenozoospermia due to irregular sperm flagella.
- Six genes linked to MMAF have been identified; however, many cases remain unexplained, indicating more undiscovered gene defects.
- Whole-exome sequencing revealed that mutations in the ARMC2 gene cause the MMAF phenotype in both humans and mice, highlighting its crucial role in sperm flagellum structure and assembly.
Article Synopsis
- The MMAF phenotype is a severe sperm defect leading to male infertility, characterized by immotile sperm with various flagellar abnormalities.
- Recent research identified mutations in the CFAP69 gene that are linked to MMAF, accounting for additional cases of this condition.
- Studies in both humans with CFAP69 mutations and a mouse model demonstrate that CFAP69 is essential for the proper formation and stability of flagella in sperm.
Article Synopsis
- Spermatogenesis issues affect millions of men globally, but many remain undiagnosed.
- The research identified 22 men with primary infertility linked to mutations in genes DNAH1, CFAP43, and CFAP44, confirmed through genetic sequencing.
- CRISPR/Cas9 experiments on mice demonstrated that CFAP43 and CFAP44 are crucial for producing functional sperm flagella, underscoring their importance across different species.
Purpose: Male infertility is a multifactorial disorder with impressively genetic basis; besides, sperm abnormalities are the cause of numerous cases of male infertility. In this study, we evaluated the genetic variants in exons 4 and 5 and their intron-exon boundaries in RABL2B gene in infertile men with oligoasthenoteratozoospermia (OAT) and immotile short tail sperm (ISTS) defects to define if there is any association between these variants and human male infertility.
Methods: To this purpose, DNA was extracted from peripheral blood and after PCR reaction and sequencing, the results of sequenced segments were analyzed.
Study Question: Can whole-exome sequencing (WES) of patients with multiple morphological abnormalities of the sperm flagella (MMAF) identify causal mutations in new genes or mutations in the previously identified dynein axonemal heavy chain 1 (DNAH1) gene?
Summary Answer: WES for six families with men affected by MMAF syndrome allowed the identification of DNAH1 mutations in four affected men distributed in two out of the six families but no new candidate genes were identified.
What Is Known Already: Mutations in DNAH1, an axonemal inner dynein arm heavy chain gene, have been shown to be responsible for male infertility due to a characteristic form of asthenozoospermia called MMAF, defined by the presence in the ejaculate of spermatozoa with a mosaic of flagellar abnormalities including absent, coiled, bent, angulated, irregular and short flagella.
Study Design, Size, Duration: This was a retrospective genetics study of patients presenting a MMAF phenotype.