New PDF release: Holocarboxylase Synthetase Deficiency - A Bibliography and

By Philip M. Parker

ISBN-10: 0497112337

ISBN-13: 9780497112332

ISBN-10: 142949753X

ISBN-13: 9781429497534

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Extra info for Holocarboxylase Synthetase Deficiency - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers

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Somatic mutations occur in the DNA of certain cells during a person’s lifetime, and typically are not passed to future generations. Because mitochondrial DNA has a limited ability to repair itself when it is damaged, these mutations tend to build up over time. A buildup of somatic mutations in mitochondrial DNA has been associated with some forms of cancer and an increased risk of certain age-related disorders such as heart disease, Alzheimer disease, and Parkinson disease. Additionally, research suggests that the progressive accumulation of these mutations over a person’s lifetime may play a role in the normal process of aging.

This form of testing, which is also known as at-home genetic testing, provides access to a person’s genetic information without necessarily involving a doctor or insurance company in the process. If a consumer chooses to purchase a genetic test directly, the test kit is mailed to the consumer instead of being ordered through a doctor’s office. The test typically involves collecting a DNA sample at home, often by swabbing the inside of the cheek, and mailing the sample back to the laboratory. In some cases, the person must visit a health clinic to have blood drawn.

A complete record includes information from three generations of relatives, 34 Holocarboxylase Synthetase Deficiency including children, brothers and sisters, parents, aunts and uncles, nieces and nephews, grandparents, and cousins. Families have many factors in common, including their genes, environment, and lifestyle. Together, these factors can give clues to medical conditions that may run in a family. By noticing patterns of disorders among relatives, healthcare professionals can determine whether an individual, other family members, or future generations may be at an increased risk of developing a particular condition.

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Holocarboxylase Synthetase Deficiency - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker


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