No mitochondrial DNA deletions but more D-loop point mutations in repeated pregnancy loss

Seyedhassani, Seyed Mohammad; Houshmand, Massoud; Kalantar, Seyed Mehdi; Modabber, Glayol; Aflatoonian, Abbas

doi:10.1007/s10815-010-9435-2

Cited by 19 publications

(17 citation statements)

References 45 publications

(47 reference statements)

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“…However, the C16069T polymorphism has been reported in prostate cancer [25], pancreatic cancer [26], endometrial cancer [27], breast cancer [28,29], repeated pregnancy loss [30] and age-related macular degeneration [31]. This result supports our hypothesis, which shows the potential of specific mitochondrial 16069 polymorphism involvement in carcinogenesis.…”

Section: Discussionsupporting

confidence: 85%

The mitochondrial C16069T polymorphism, not mitochondrial D310 (D-loop) mononucleotide sequence variations, is associated with bladder cancer

et al. 2013

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BackgroundBladder cancer is a relatively common and potentially life-threatening neoplasm that ranks ninth in terms of worldwide cancer incidence. The aim of this study was to determine deletions and sequence variations in the mitochondrial displacement loop (D-loop) region from the blood specimens and tumoral tissues of patients with bladder cancer, compared to adjacent non-tumoral tissues.MethodsThe DNA from blood, tumoral tissues and adjacent non-tumoral tissues of twenty-six patients with bladder cancer and DNA from blood of 504 healthy controls from different ethnicities were investigated to determine sequence variation in the mitochondrial D-loop region using multiplex polymerase chain reaction (PCR), DNA sequencing and southern blotting analysis.ResultsFrom a total of 110 variations, 48 were reported as new mutations. No deletions were detected in tumoral tissues, adjacent non-tumoral tissues and blood samples from patients. Although the polymorphisms at loci 16189, 16261 and 16311 were not significantly correlated with bladder cancer, the C16069T variation was significantly present in patient samples compared to control samples (p < 0.05). Interestingly, there was no significant difference (p > 0.05) of C variations, including C7TC6, C8TC6, C9TC6 and C10TC6, in D310 mitochondrial DNA between patients and control samples.ConclusionOur study suggests that 16069 mitochondrial DNA D-Loop mutations may play a significant role in the etiology of bladder cancer and facilitate the definition of carcinogenesis-related mutations in human cancer.

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Section: Discussionsupporting

confidence: 85%

The mitochondrial C16069T polymorphism, not mitochondrial D310 (D-loop) mononucleotide sequence variations, is associated with bladder cancer

et al. 2013

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“…Two studies (Seyedhassani et al, 2010a, Seyedhassani et al, 2010b analysed and sequenced mitochondrial tDNA (AUTHOR: is tDNA correct here?) in 96 women with RPL.…”

Section: Other Genetic Causesmentioning

confidence: 99%

Potential genetic causes of miscarriage in euploid pregnancies: a systematic review

Colley

Hamilton

Smith

et al. 2019

Human Reproduction Update

108

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BACKGROUND Approximately 50% of pregnancy losses are caused by chromosomal abnormalities, such as aneuploidy. The remainder has an apparent euploid karyotype, but it is plausible that there are cases of pregnancy loss with other genetic aberrations that are not currently routinely detected. Studies investigating the use of exome sequencing and chromosomal microarrays in structurally abnormal pregnancies and developmental disorders have demonstrated their clinical application and/or potential utility in these groups of patients. Similarly, there have been several studies that have sought to identify genes that are potentially causative of, or associated with, spontaneous pregnancy loss, but the evidence has not yet been synthesized. OBJECTIVE AND RATIONALE The objective was to identify studies that have recorded monogenic genetic contributions to pregnancy loss in euploid pregnancies, establish evidence for genetic causes of pregnancy loss, identify the limitations of current evidence, and make recommendations for future studies. This evidence is important in considering additional research into Mendelian causes of pregnancy loss and appropriate genetic investigations for couples experiencing recurrent pregnancy loss. SEARCH METHODS A systematic review was conducted in MEDLINE (1946 to May 2018) and Embase (1974 to May 2018). The search terms ‘spontaneous abortion’, ‘miscarriage’, ‘pregnancy loss’, or ‘lethal’ were used to identify pregnancy loss terms. These were combined with search terms to identify the genetic contribution including ‘exome’, ‘human genome’, ‘sequencing analysis’, ‘sequencing’, ‘copy number variation’, ‘single-nucleotide polymorphism’, ‘microarray analysis’, and ‘comparative genomic hybridization’. Studies were limited to pregnancy loss up to 20 weeks in humans and excluded if the genetic content included genes that are not lethal in utero, PGD studies, infertility studies, expression studies, aneuploidy with no recurrence risk, methodologies where there is no clinical relevance, and complex genetic studies. The quality of the studies was assessed using a modified version of the Newcastle–Ottawa scale. OUTCOMES A total of 50 studies were identified and categorized into three themes: whole-exome sequencing studies; copy number variation studies; and other studies related to pregnancy loss including recurrent molar pregnancies, epigenetics, and mitochondrial DNA aberrations. Putatively causative variants were found in a range of genes, including CHRNA1 (cholinergic receptor, nicotinic, alpha polypeptide 1), DYNC2H1 (dynein, cytoplasmic 2, heavy chain 1), and RYR1 (ryanodine receptor 1), which were identified in multiple studies. Copy number variants were also identified to have a causal or associated link with recurrent miscarriage. WIDER IMPLICATIONS Identification of genes that are causative of or predisposing to pregnancy loss will be of significant individual patient impact with respect to counselling and treatment. In addition, knowledge of specific genes that contribute to pregnancy loss could also be of importance in designing a diagnostic sequencing panel for patients with recurrent pregnancy loss and also in understanding the biological pathways that can cause pregnancy loss.

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“…Moreover, DNA variations and high rate of mutations in D-loop of mtDNA was observed in maternal blood, a fact that may have a direct or indirect role in inducing oocyte maturation defect, early embryo cell death and repeated pregnancy loss (Seyedhassani et al, 2010;Vanniarajan et al, 2011). Furthermore, there is evidence that mtDNA mutations can have a striking impact on the viability of gametes and human embryos ( Table 2).…”

Section: Organelle Pathologymentioning

confidence: 99%

Mitochondria: Participation to infertility as source of energy and cause of senescence

Benkhalifa¹,

Ferreira²,

Chahine³

et al. 2014

The International Journal of Biochemistry & Cell Biology

100

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No mitochondrial DNA deletions but more D-loop point mutations in repeated pregnancy loss

Cited by 19 publications

References 45 publications

The mitochondrial C16069T polymorphism, not mitochondrial D310 (D-loop) mononucleotide sequence variations, is associated with bladder cancer

The mitochondrial C16069T polymorphism, not mitochondrial D310 (D-loop) mononucleotide sequence variations, is associated with bladder cancer

Potential genetic causes of miscarriage in euploid pregnancies: a systematic review

Mitochondria: Participation to infertility as source of energy and cause of senescence

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