Investigation of human paternal mitochondrial DNA transmission in ART babies whose fathers with male infertility

Objective: To investigate the paternal mitochondrial DNA's effect on assisted reproductive technology (ART) applications and possible paternal mitochondrial DNA transmission in male factor infertility diagnosed fathers

Investigation of human paternal mitochondrial DNA transmission in ART babies whose fathers with male infertility

Objective: To investigate the paternal mitochondrial DNA's effect on assisted reproductive technology (ART) applications and possible paternal mitochondrial DNA transmission in male factor infertility diagnosed fathers

The significance of MUM1/IRF4 protein expression and IRF4 translocation of CD30(+) cutaneous T-cell lymphoproliferative disorders: A study of 53 cases

Current laboratory technics, clinicopathologic findings cannot always reliably distinguish primary cutaneous CD30(+) lymphoproliferative disorders (LPD), such as lymphomatoid papulosis (LyP), primary cutaneous CD30(+) anaplastic large cell lymphoma (PCALCL), transformed mycosis fungoides (T-MF) and systemic ALK(-) anaplastic large cell lymphoma (ALCL) with skin involvement. We investigated the presence of IRF4 translocation with break apart DNA-FISH method of these entities according to the recent studies of Feldman et al

Assessment of the Role of Nuclear ENDOG Gene and mtDNA Variations on Paternal Mitochondrial Elimination (PME) in Infertile Men: An Experimental Study

In humans and most animals, maternal inheritance of mitochondria and mitochondrial DNA (mtDNA) is considered as an universal assumption. Recently, several lines of evidence suggest that different species seem to employ distinct mechanisms to prevent the inheritance of paternal mtDNA. There are few studies in the literature on the molecular basis of sperm mtDNA elimination in mammals and paternal mtDNA transmission in humans. Endonuclease G (ENDOG) is a mitochondrial nuclease encoded by nuclear ENDOG gene. The critical importance of ENDOG gene on paternal mitochondrial elimination (PME) has been previously demonstrated in model organisms such as C.elegans and D. melanogaster. However, its mechanism in human is still unclear. Therefore, we aimed to evaluate whether nuclear ENDOG gene copy number could be a potential marker of paternal mtDNA transmission or not. Male factor infertility patients diagnosed with different infertility subgroups such as azoospermia, oligoteratozoospermia, astheno-teratozoospermia were included in this study: 13 infertile men and 25 healthy men as control group. Quantitative real-time polymerase chain reaction (qPCR) analysis and dual-color Fluorescence in situ hybridization (FISH) method were used to compare the groups. FISH method was applied to verify qPCR results and two signals were observed in nearly all patients. ENDOG gene copy number data were evaluated by comparing them with entire human mtDNA next-generation sequencing (NGS) analysis results obtained through bioinformatics and proteomics tools. Mitochondrial whole genome sequencing (WGS) data allowed determination of novel and reported variations such as single nucleotide polymorphisms (SNPs), multiple nucleotide polymorphism (MNP), insertion/deletion (INDEL). Missense variants causing amino acid substitution were filtered out from patients' mtDNA WGS data. Relative copy number of target ENDOG gene in male infertility patients [0.49 (0.31 - 0.77)] was lower than healthy controls [1.00 (0.66 - 1.51)], and statistical results showed significant differences between the groups (p < 0.01). A total of 38 missense variants were detected in the genes encoding the proteins involved in the respiratory chain complex. Moreover, we detected paternal mtDNA transmissions in the children of these patients who applied to assisted reproductive techniques. In conclusion, this study reveals that ENDOG gene may be an important factor for the PME mechanism in humans. To the best of our knowledge, this is the first study in humans about this topic and assessment of ENDOG gene sequencing and gene expression studies in a larger sample size including patients with male factor infertility would be our future project

Congenital heart disease in children with Down's syndrome: Turkish experience of 13 years.

Background - Down's syndrome (DS) is the most common chromosomal abnormality due to a trisomy of chromosome 21 commonly associated with congenital heart defects (CHDs). This study aimed to evaluate the frequency and types of CHD patterns in Turkish children with DS