نتایج جستجو برای: mitochondrial mutations
تعداد نتایج: 298675 فیلتر نتایج به سال:
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...
Mitochondria contain their own DNA (mtDNA), which codes for 13 proteins (all subunits of the respiratory chain complexes), 22 tRNAs and 2 rRNAs. Several mtDNA point mutations as well as deletions have been shown to be causative in well-defined mitochondrial disorders. A mixture of mutated and wild type mtDNA (heteroplasmy) is found in most of these disorders. Inheritance of mtDNA is maternal, a...
Mitochondria are membrane-enclosed organelle found in most eukaryotic cells, which known as power house in cells. This organelle transforms energy into forms that are usable by the cell. The most common psychiatric disorders such as depression and anxiety can be linked to mitochondrial disorders. Furthermore, mutations of mitochondrial or nuclear DNA (mtDNA and nDNA, respectively) have been lin...
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 and Objectives: Familial adenomatous polyposis (FAP) is an inherited disorder and a rare form of colorectal cancer. This disease appears equally in both sexes and its occurrence is more in the second or third decade of life. Mutations and alterations of the mitochondrial genome, especially the D-loop region, have been reported in various human tumors. But the exact role of these muta...
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 ...
Introduction: The mitochondrial defects in Friedreich ataxia (FRDA) have been reported in many researches. Friedreich ataxia is an autosomal recessive neurodegenerative disorder caused by decreased expression of the Frataxin protein. Frataxin deficiency leads to excessive free radical production and dysfunction of respiratory chain complexes. Mitochondrial DNA (mtDNA) could be considered as a c...
Abstract Background and Objectives Mitochondrial biogenesis is a complex process involving the coordinated expression of mitochondrial and nuclear genes, the import of the products of the latter into the organelle and turnover of this process. Mitochondrial malfunction or defects in any of the many pathways involved in mitochondrial biogenesis can lead to degenerative diseases and possibly pla...
objective(s) the mitochondrial defects in friedreich's ataxia have been reported in many researches. mitochondrial dna is one of the candidates for defects in mitochondrion, and complex i is the first and one of the largest catalytic complexes of oxidative phosphorylation (oxphos) system. materials and methods we searched the mitochondrial nd4l gene for mutations by ttge and sequencing on ...
the hypothesis that mitochondrial genes may be implicated in susceptibility to multiple sclerosis (ms) is supported by an increasing number of case reports on lebers hereditary optic neuropathy (lhon)-associated mitochondrial dna (mtdna) point mutations in patients with ms. a number of mtdna mutations with primary pathogenic significance for lhon, a maternally inherited disease causing severe b...
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