نتایج جستجو برای: polg gene
تعداد نتایج: 1141492 فیلتر نتایج به سال:
Mutations in the nuclear gene POLG (encoding the catalytic subunit of DNA polymerase gamma) are an important cause of mitochondrial disease. The most common POLG mutation, A467T, appears to exhibit considerable phenotypic heterogeneity. The mechanism by which this single genetic defect results in such clinical diversity remains unclear. In this study we evaluate the clinical, neuropathological ...
Mitochondrial DNA (mtDNA) alterations and their clinical and pathological implications have been analyzed in several human malignancies. A marked decrease in mtDNA copy number along with the increase in malignancy was observed in diffusely infiltrating astrocytomas (24 WHO grade II, 18 grade III, and 78 grade IV or GBM) compared to non-neoplastic brain tissues, being mostly depleted in GBM. Alt...
The human POLG gene encodes the catalytic subunit of mitochondrial DNA polymerase gamma (pol gamma). Mutations in pol gamma are associated with a spectrum of disease phenotypes including autosomal dominant and recessive forms of progressive external ophthalmoplegia, spino-cerebellar ataxia and epilepsy, and Alpers-Huttenlocher hepatocerebral poliodystrophy. Multiple deletions, or depletion of m...
Mip1 is the Saccharomyces cerevisiae DNA polymerase γ (Pol γ), which is responsible for the replication of mitochondrial DNA (mtDNA). It belongs to the family A of the DNA polymerases and it is orthologs to human POLGA. In humans, mutations in POLG(1) cause many mitochondrial pathologies, such as progressive external ophthalmoplegia (PEO), Alpers' syndrome, and ataxia-neuropathy syndrome, all o...
بررسی ارتباط بین توالی های تکراری cag در ژن dna پلیمراز گاما (polg) با بیماری مالتیپل اسکلروزیس (ms)
مالتیپل اسکلروزیس (ms) شایع ترین بیماری سیستم عصبی مرکزی است که در نتیجه تاثیر متقابل التهاب و فرآیند های تخریب عصبی ایجاد می شود. این بیماری موجب اختلالات عصبی متناوب و به دنبال آن افزایش ناتوانی می شود. مشخص شده است که عدم عملکرد میتوکندری باعث ایجاد اختلالات عصبی می شود. ژن polg، کد کننده زیر واحد کاتالیکی آنزیم dna پلیمراز گاما، مسئول همانندسازی dna میتوکندری می باشد. پروتئین این ژن در ناحی...
BACKGROUND Premature ovarian failure (POF) results in menopause before the age of 40. Recently, mutations in the catalytic subunit of mitochondrial DNA polymerase gamma (POLG) were shown to segregate with POF in families with progressive external ophthalmoplegia (PEO) and multiple large-scale rearrangements of mitochondrial DNA (mtDNA). METHODS AND RESULTS A patient, mother and maternal grand...
Case presentation: VTG, 2 years old, daughter of non-consanguineous parents, born by cesarean section at 35 weeks. At birth, he had neonatal sepsis and hypoglycemia. 3 months, started generalized tonic-clonic seizures associated with behavioral arrest ocular version, refractory to treatment optimization antiepileptic drugs. In addition neuropsychomotor developmental regression, sleep disturbanc...
The mechanism of mitochondrial DNA replication is a subject of intense debate. One model proposes a strand-asynchronous replication in which both strands of the circular genome are replicated semi-independently while the other model proposes both a bidirectional coupled leading- and lagging-strand synthesis mode and a unidirectional mode in which the lagging-strand is initially laid-down as RNA...
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