نتایج جستجو برای: trna mitochondrial mutation repeated pregnancy loss
تعداد نتایج: 1060873 فیلتر نتایج به سال:
Inherited thrombophilias have been suggested as a possible condition of increased susceptibility to adverse pregnancy outcomes. Although there is no consensus on the association between the factor V Leiden mutation and early (less than 10 weeks) pregnancy loss, the evidence suggests an association between the mutation and second-, and third-trimester fetal loss and severe preeclampsia. At prese...
CLP1 is a RNA kinase involved in tRNA splicing. Recently, CLP1 kinase-dead mice were shown to display a neuromuscular disorder with loss of motor neurons and muscle paralysis. Human genome analyses now identified a CLP1 homozygous missense mutation (p.R140H) in five unrelated families, leading to a loss of CLP1 interaction with the tRNA splicing endonuclease (TSEN) complex, largely reduced pre-...
Chronic progressive external ophthalmoplegia is a mitochondrial disorder usually caused by single or multiple mitochondrial DNA (mtDNA) deletions and, more rarely, by maternally inherited mtDNA point mutations, most frequently in tRNA genes (MTT). We report on a patient presenting with a progressive eyelid ptosis with bilateral ophthalmoparesis, dysphagia, dysphonia and mild proximal limb weakn...
In patients with mitochondrial disease a continuously increasing number of mitochondrial DNA (mtDNA) mutations and polymorphisms have been identified. Most pathogenic mtDNA mutations are heteroplasmic, resulting in heteroduplexes after PCR amplification of mtDNA. To detect these heteroduplexes, we used the technique of denaturing high performance liquid chromatography (DHPLC). The complete mito...
The majority of patients with MELAS (mitochondrial encephalomyophathy, lactic acidosis, stroke-like episodes) carry a heteroplasmic A3243G mutation in the mitochondrial tRNA(Leu(UUR)). The mutation prevents modification of the wobble U base, impairing translation at UUA and UUG codons; however, whether this results in amino acid misincorporation in the mitochondrial translation products remains...
Abstract Defects in the posttranscriptional modifications of mitochondrial tRNAs have been linked to human diseases, but their pathophysiology remains elusive. In this report, we investigated molecular mechanism underlying a deafness-associated tRNAIle 4295A>G mutation affecting highly conserved adenosine at position 37, 3′ adjacent tRNA’s anticodon. Primer extension and methylation acti...
Accuracy of protein synthesis is enabled by the selection of amino acids for tRNA charging by aminoacyl-tRNA synthetases (ARSs), and further enhanced by the proofreading functions of some of these enzymes for eliminating tRNAs mischarged with noncognate amino acids. Mouse models of editing-defective cytoplasmic alanyl-tRNA synthetase (AlaRS) have previously demonstrated the importance of proofr...
Mutations in mitochondrial DNA (mtDNA), especially tRNA (mt-tRNAs) genes, play important roles maternally inherited type 2 diabetes mellitus (T2DM), but the molecular mechanism remains unclear. In this study, two families with transmitted T2DM are underwent clinical, genetic and assessments. The mtDNA mutations screened by direct sequencing. Furthermore, phylogenetic conservation analysis patho...
Background: Hearing impairment as a heterogeneous disorder is the most common sensory defect that occur 1 in 1000. Mutations in GJB2 (CX26) gene at DFNB1 locus on 13q12 are responsible for autosomal recessive non-syndromic hearing loss (ARNSHL) in many populations. This study investigates the GJB2 gene mutations in deaf patients refereed to the deaf center of Tabriz. Methods: In the present ...
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