background: mitochondrial transfer rnas (trna) genes are essential components of protein biosynthesis. these genes are hotspots for mutations. these mutations are associated with a wide spectrum of human disease. many genetic factors are known in assessment of repeated pregnancy loss (rpl). objective: the aim of this study was analysis of trna thr and trna pro in women with rpl. materials and m...

Background: Mitochondrial transfer RNAs (tRNA) genes are essential components of protein biosynthesis. These genes are hotspots for mutations. These mutations are associated with a wide spectrum of human disease. Many genetic factors are known in assessment of repeated pregnancy loss (RPL). Objective: The aim of this study was analysis of tRNA Thr and tRNA Pro in women with RPL. Materials and M...

background: mitochondria are autonomous cellular organelles that oversee a variety of functions such as metabolism, energy production, calcium buffering, and cell fate determination. most recently, mitochondrial dysfunction caused by mitochondrial mutations played important roles in the pathogenesis of asthma. however, the frequency of mitochondrial trna mutations in asthma is largely unknown. ...

the autism spectrum disorders (asd) are amongst the most heritable complex disorders. although there have been many efforts to locate the genes associated with asd risk, many has been remained to be disclosed about the genetics of asd. scrutiny's have only disclosed a small number of de novo and inherited variants significantly associated with susceptibility to asd. these only comprise a s...

The authors report here the clinical, genetic, molecular and biochemical characterisation of a large five-generation Han Chinese pedigree with maternally transmitted non-syndromic hearing loss. 17 of 35 matrilineal relatives exhibited variable severity and age at onset of sensorineural hearing loss. The average age at onset of hearing loss in matrilineal relatives of this family is 29 years, wh...

introduction: a number of maternally inherited mitochondrial diseases with distinct clinical phenotypes have been associated with point mutations in mtdna, all of which result in neurologic or neuromuscular disorders. several studies showed that mutations in the trna genes of mtdna could cause mitochondrial disease due to the decreased synthesis of mitochondrial dna coded proteins. materials an...

Initiation of protein synthesis in mitochondria and chloroplasts normally uses a formylated initiator methionyl-tRNA (fMet-tRNA(f)(Met)). However, mitochondrial protein synthesis in Saccharomyces cerevisiae can initiate with nonformylated Met-tRNA(f)(Met), as demonstrated in yeast mutants in which the nuclear gene encoding mitochondrial methionyl-tRNA formyltransferase (FMT1) has been deleted. ...

The autism spectrum disorders (ASD) are amongst the most heritable complex disorders. Although there have been many efforts to locate the genes associated with ASD risk, many has been remained to be disclosed about the genetics of ASD. Scrutiny's have only disclosed a small number of de novo and inherited variants significantly associated with susceptibility to ASD. These only comprise a small ...

huntington disease (hd) is a genetically dominant condition caused by expanded cag repeats which code for glutamine in the hd gene product, huntingtin. huntingtin is expressed in almost all tissues, so abnormalities outside the brain can also be expected. involvement of nuclei and mitochondria in hd pathophysiology has been suggested. in fact, mitochondrial dysfunction is reported in brains of ...