mitochondrial mutations

نتایج جستجو برای: mitochondrial mutations

تعداد نتایج: 298675 فیلتر نتایج به سال:

Mitochondrial DNA mutations in disease, aging, and neurodegeneration.

Journal: :Annals of the New York Academy of Sciences 2008

Amy K Reeve Kim J Krishnan Doug Turnbull

Patients with disorders from mutations in the mitochondrial genome have variable phenotypes, but common to many of these disorders are underlying changes in postmitotic cells, particularly neurons and muscle fibers. The mitochondrial dysfunction caused by these mutations has been shown to be associated with signs of apoptosis and to cause cell loss. Mutations of the mitochondrial genome have al...

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Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.

Journal: :American journal of human genetics 2016

Kyle Thompson Homa Majd Cristina Dallabona Karit Reinson Martin S King Charlotte L Alston Langping He Tiziana Lodi Simon A Jones Aviva Fattal-Valevski Nitay D Fraenkel Ann Saada Alon Haham Pirjo Isohanni Roshni Vara Inês A Barbosa Michael A Simpson Charu Deshpande Sanna Puusepp Penelope E Bonnen Richard J Rodenburg Anu Suomalainen Katrin Õunap Orly Elpeleg Ileana Ferrero Robert McFarland Edmund R S Kunji Robert W Taylor

Mutations in SLC25A4 encoding the mitochondrial ADP/ATP carrier AAC1 are well-recognized causes of mitochondrial disease. Several heterozygous SLC25A4 mutations cause adult-onset autosomal-dominant progressive external ophthalmoplegia associated with multiple mitochondrial DNA deletions, whereas recessive SLC25A4 mutations cause childhood-onset mitochondrial myopathy and cardiomyopathy. Here, w...

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investigation of the mitochondrial atpase 6/8 and trnalys genes mutations in autism

Journal: :cell journal 0

objective: autism results from developmental factors that affect many or all functional brain systems. brain is one of tissues which are crucially in need of adenosine triphosphate (atp). autism is noticeably affected by mitochondrial dysfunction which impairs energy metabolism. considering mutations within atpase 6, atpase 8 and trnalys genes, associated with different neural diseases, and the...

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Mitochondrial DNA Mutations in Cancer

Journal: :PLoS Medicine 2005

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Mitochondrial DNA mutations and pathogenicity.

Journal: :Journal of Medical Genetics 1998

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Minisequencing mitochondrial DNA pathogenic mutations

Journal: :BMC Medical Genetics 2008

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Mitochondrial mutations and nasopharyngeal carcinoma

Journal: :Cancer Biology & Therapy 2004

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Mitochondrial resequencing arrays detect tumor-specific mutations in salivary rinses of patients with head and neck cancer.

Journal: :Clinical cancer research : an official journal of the American Association for Cancer Research 2007

Suhail K Mithani Ian M Smith Shaoyu Zhou Andrew Gray Wayne M Koch Anirban Maitra Joseph A Califano

PURPOSE Alterations of the mitochondrial genome have been identified in multiple solid tumors and in many head and neck squamous cell carcinomas (HNSCC). Identification of mitochondrial mutations in the salivary rinses of patients with HNSCC has potential application in disease detection. In this study, we used the MitoChip v2.0 mitochondrial genome resequencing array to detect minor population...

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investigation of mitochondrial common deletion and brca mutations for detection of familial breast cancers in archival breast cancer materials

Journal: :iranian journal of cancer prevention 0

h rassi m houshmand m hashemi ak majidzadeh mh hosseini akbari

abstract bachground and aim: mutation analysis of mitochondrial genome and brca genes are helpful in the early diagnosis of familial breast cancers. in this study, we investigated mitochondrial common deletion and brca mutations through multiplex pcr and clinical parameters for the detection of familial breast cancers in archival breast cancer samples. methods: the multiplex pcr was conducted o...

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Mitochondrial dysfunction in hearing loss.

Journal: :Mitochondrion 2004

Nathan Fischel-Ghodsian Richard D Kopke Xianxi Ge

Mitochondrial pathology plays an important role in both inherited and acquired hearing loss. Inherited mitochondrial DNA mutations have been implicated in both syndromic and non-syndromic hearing loss, as well as in predisposition to aminoglycoside ototoxicity. Acquired mitochondrial dysfunction in the absence of mitochondrial DNA mutations has also been proposed as playing an important role in...

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