نتایج جستجو برای: mitochondrial mutations
تعداد نتایج: 298675 فیلتر نتایج به سال:
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: 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. ...
objective(s): as mitochondrial oxidative stress is probably entailed in atp production, a candidate modifier factor for the long qt syndrome (lqts) could be mitochondrial dna (mtdna). it has been notified that ion channels' activities in cardiomyocytes are sensitive to the atp level. materials and methods: the sample of the research was an iranian family with lqts for mutations by pcr-sscp...
Objective(s): As mitochondrial oxidative stress is probably entailed in ATP production, a candidate modifier factor for the long QT syndrome (LQTS) could be mitochondrial DNA (mtDNA). It has been notified that ion channels' activities in cardiomyocytes are sensitive to the ATP level. Materials and Methods: The sample of the research was an Iranian family with LQTS for mutations by PCR-SSCP and...
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 ...
Objective Several recent studies have shown that mitochondrial DNA mutations lead to major disabilities and premature death in carriers. More than 150 mutations in human mitochondrial DNA (mtDNA) genes have been associated with a wide spectrum of disorders. Varicocele, one of the causes of infertility in men wherein abnormal inflexion and distension of veins of the pampiniform plexus is observe...
Nuclear genetic mutations have been extensively investigated in solid tumors. However, the role of the mitochondrial genome remains uncertain. Since the metabolism of solid tumors is associated with aerobic glycolysis and high lactate production, tumors may have mitochondrial dysfunctions. Familial adenomatous polyposis (FAP) is a rare form of colorectal cancer and an autosomal dominant inheri...
objective: several recent studies have shown that mitochondrial dna mutations lead to major disabilities and premature death in carriers. more than 150 mutations in human mitochondrial dna (mtdna) genes have been associated with a wide spectrum of disorders. varicocele, one of the causes of infertility in men wherein abnormal inflexion and distension of veins of the pampiniform plexus is observ...
Background: Varicocele is the abnormal tortuosity and dilatation of the veins of the pampiniform plexus within the spermatic cord. Varicocele-related pathology is suspected in infertility as it leads to elevated temperatures in the scrotum and testes, which has a deleterious effect on spermatogenesis. In Varicocele patients, ROS production is enhanced and total antioxidant capacity (TAC) is red...
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 30...
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