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THE GENETIC CHALLENGES OF
"... The unorthodox genetics of the mtDNA is providing new perspectives on the etiology of the common “complex ” diseases. The maternally inherited mtDNA codes for essential energy genes, is present in thousands of copies per cell, and has a very high mutation rate. New mtDNA mutations arise among thousa ..."
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The unorthodox genetics of the mtDNA is providing new perspectives on the etiology of the common “complex ” diseases. The maternally inherited mtDNA codes for essential energy genes, is present in thousands of copies per cell, and has a very high mutation rate. New mtDNA mutations arise among thousands of other mtDNAs. The mechanisms by which these “heteroplasmic ” mtDNA mutations come to predominate in the female germline and somatic tissues is poorly understood, but essential for understanding the clinical vari-ability of a range of diseases. Maternal inheritance and heteroplasmy also pose major chal-lengers for the diagnosis and prevention of mtDNA disease.
RESEARCH ARTICLE Human Mutation OFFICIAL JOURNAL Segregation of mtDNA Throughout Human Embryofetal Development: m.3243A4G as a Model System www.hgvs.org
, 2010
"... cause a wide range of serious diseases with high transmission risk and maternal inheritance. Tissue heterogeneity of the heteroplasmy rate (‘‘mutant load’’) accounts for the wide phenotypic spectrum observed in carriers. Owing to the absence of therapy, couples at risk to transmit such disorders com ..."
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cause a wide range of serious diseases with high transmission risk and maternal inheritance. Tissue heterogeneity of the heteroplasmy rate (‘‘mutant load’’) accounts for the wide phenotypic spectrum observed in carriers. Owing to the absence of therapy, couples at risk to transmit such disorders commonly ask for prenatal (PND) or preimplantation diagnosis (PGD). The lack of data regarding heteroplasmy distribution throughout intrauterine development, however, hampers the implementation of such procedures. We tracked the segregation of the m.3243A4G mutation (MT-TL1 gene) responsible for the MELAS syndrome in the developing embryo/fetus, using tissues and cells from eight carrier females, their 38 embryos and 12 fetuses. Mutant mtDNA segregation was found to be governed by random
Correction of the consequences of mitochondrial
, 2011
"... doi:10.1093/nar/gkr546 ..."
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Chairman, House of Lords Secondary Legislation Scrutiny Committee
, 2015
"... Re: Regulations to avoid mitochondrial disease We are writing on behalf of the bioscience sector and patient groups to assist your committee in its consideration of the Human Fertilisation and Embryology (Mitochondrial Donation) Regulations 2015 (Regulations), which we support. In particular we comm ..."
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Re: Regulations to avoid mitochondrial disease We are writing on behalf of the bioscience sector and patient groups to assist your committee in its consideration of the Human Fertilisation and Embryology (Mitochondrial Donation) Regulations 2015 (Regulations), which we support. In particular we commend the detailed scrutiny and consultation process which has resulted in informed and clear regulations. Mitochondrial disease is a devastating and debilitating condition. Many children born with the condition will not make it to adulthood.1 New IVF techniques (mitochondrial donation)2 could allow women who carry mitochondrial disease the reproductive option to choose to have their own genetically related children unaffected by these devastating disorders. We support mitochondrial donation as a reproductive choice to enable families to avoid having children with serious mitochondrial disease. The relevant Regulation-making powers were included in the Human Fertilisation and Embryology Act 2008 (Act), enabling the Secretary of State to make regulations when appropriate, to allow the Human Fertilisation and Embryology Authority (HFEA) to licence the use of these ground breaking therapies in the clinic. This Act passed through Parliament after
unknown title
"... 1983 – Pronuclear transfer (PNT) performed in mice (without mitochondrial abnormalities). PNT-derived embryos developed normally, similar to development of unmanipulated embryos, and resulted in birth of normal offspring. ..."
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1983 – Pronuclear transfer (PNT) performed in mice (without mitochondrial abnormalities). PNT-derived embryos developed normally, similar to development of unmanipulated embryos, and resulted in birth of normal offspring.
unknown title
, 2011
"... Correction of the consequences of mitochondrial 3243A>G mutation in the MT-TL1 gene causing the MELAS syndrome by tRNA import into mitochondria ..."
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Correction of the consequences of mitochondrial 3243A>G mutation in the MT-TL1 gene causing the MELAS syndrome by tRNA import into mitochondria
unknown title
, 2011
"... Correction of the consequences of mitochondrial 3243A>G mutation in the MT-TL1 gene causing the MELAS syndrome by tRNA import into mitochondria ..."
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Correction of the consequences of mitochondrial 3243A>G mutation in the MT-TL1 gene causing the MELAS syndrome by tRNA import into mitochondria
