نتایج جستجو برای: mitochondrial deletions

تعداد نتایج: 150658  

Journal: :Experimental gerontology 2003
Robert E Thayer Roy Wittock Ryan Parr Steve Zullo Mark A Birch-Machin

The most frequently reported species of mitochondrial DNA (mtDNA) damage associated with ageing is the 4977-bp 'Common Deletion'. However, recent observations have raised several issues within the deletion debate namely: the significance of the 4977-bp deletion (CD) as a universal DNA marker of ageing and mitochondrial dysfunction; and the possibility for maternal transmission of deletions in h...

2013
Siôn L. Williams Deborah C. Mash Stephan Züchner Carlos T. Moraes

The accumulation of heteroplasmic mitochondrial DNA (mtDNA) deletions and single nucleotide variants (SNVs) is a well-accepted facet of the biology of aging, yet comprehensive mutation spectra have not been described. To address this, we have used next generation sequencing of mtDNA-enriched libraries (Mito-Seq) to investigate mtDNA mutation spectra of putamen from young and aged donors. Freque...

2017
Lionel Van Maldergem Arnaud Besse Boel De Paepe Emma L. Blakely Vivek Appadurai Margaret M. Humble Juliette Piard Kate Craig Langping He Pierre Hella François‐Guillaume Debray Jean‐Jacques Martin Marion Gaussen Patrice Laloux Giovanni Stevanin Rudy Van Coster Robert W. Taylor William C. Copeland Eric Mormont Penelope E. Bonnen

OBJECTIVE Mitochondrial dysfunction plays a key role in the pathophysiology of neurodegenerative disorders such as ataxia and Parkinson's disease. We describe an extended Belgian pedigree where seven individuals presented with adult-onset cerebellar ataxia, axonal peripheral ataxic neuropathy, and tremor, in variable combination with parkinsonism, seizures, cognitive decline, and ophthalmoplegi...

Journal: :international journal of reproductive biomedicine 0
majid motovali-bashi zahra rezaei fariba dehghanian halimeh rezaei

background: infertility is a health problem which affects about 10-20% of married couples. male factor infertility is involved approximately 50% of infertile couples. most of male infertility is regarding to deletions in the male-specific region of the y chromosome. objective: in this study, the occurrence of deletions in the azf region and association between infertility and paternal age were ...

Journal: :Biochimica et Biophysica Acta (BBA) - Bioenergetics 2010

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