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Recent debates about new techniques for the prevention of mitochondrial DNA disorders, which resulted in parliamentary regulations to permit them, gave a good example of how novel but controversial science can and should be given a timely public airing.
Human Reproduction Update 2006; 129 119–136, 129; Bredenoord et al. Ooplasmic and nuclear transfer to prevent mitochondrial DNA disorders: conceptual and normative issues.
To investigate the evolution of techniques and strategies and to evaluate the results of preimplantation genetic diagnosis (PGD) from January 2000 to December 2004 in chromosomal, monogenic and mitochondrial DNA disorders treated at our institution.
As I outlined in my book Abraham's Children: Race, Identity and the DNA of The Chosen People, Cochran, who developed the theory, theorized that these DNA disorders are genetically linked to dendrite development.
The UK government has incorporated the recommendations of its reports in many decisions, including the recent report on ethics of prevention of mitochondrial DNA disorders, and its work on novel neurotechnologies has also served as model by the US Presidential Bioethical Commission for the report on Gray Matters: Integrative Approach for Neuroscience, Ethics & Society.
This is an important area of investigation since blood brain barrier dysfunction has been documented in other mitochondrial DNA disorders, including mitochondrial neurogastrointestinal encephalopathy (MNGIE) (Szigeti et al., 2004).
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Leber's hereditary optic neuropathy is the most common mitochondrial DNA disorder causing irreversible blindness in young adult life.
Henry Harpending, an evolutionary anthropologist at the University of Utah, and Gregory Cochran, a physicist turned genetic theorist, have riveted the attention of the chattering classes by addressing the scientific mystery of why an odd cluster of brain, nervous system, and DNA "repair" disorders, including Tay Sachs and breast cancer, stubbornly persist among Jews of European descent.
Our data support previous reports that RRM2B mutations can present with a PEO-plus/Kearns Sayre syndrome phenotype akin to single mitochondrial DNA deletion disorders (Pitceathly et al., 2011).
The most common presenting neurological feature seen in adults with mitochondrial DNA maintenance disorders is progressive external ophthalmoplegia (PEO) and ptosis.
For example, mitochondrial DNA (mtDNA) disorders affect a minimum of 1 in 10 000 adults in the UK (Schaefer et al., 2008).
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