Download e-book for iPad: 3-Methylcrotonyl-Coenzyme A Carboxylase Deficiency - A by Philip M. Parker

By Philip M. Parker

ISBN-10: 0497111993

ISBN-13: 9780497111991

ISBN-10: 1429497351

ISBN-13: 9781429497350

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Extra info for 3-Methylcrotonyl-Coenzyme A Carboxylase Deficiency - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers

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Anticipation is most often seen with certain genetic disorders of the nervous system, such as Huntington disease, myotonic dystrophy, and fragile X syndrome. Anticipation typically occurs with disorders that are caused by an unusual type of mutation called a trinucleotide repeat expansion. A trinucleotide repeat is a sequence of three DNA building blocks (nucleotides) that is repeated a number of times in a row. DNA segments with an abnormal number of these repeats are unstable and prone to errors during cell division.

Many cancer cells also have changes in their chromosome number or structure. These changes most often occur in somatic cells (cells other than eggs and sperm) during a person’s lifetime. Can Changes in Mitochondrial DNA Affect Health and Development? Mitochondria are structures within cells that convert the energy from food into a form that cells can use. Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small amount of their own DNA (known as mitochondrial DNA or mtDNA).

The DNA sequence of a gene can be altered in a number of ways. Gene mutations have varying effects on health, depending on where they occur and whether they alter the function of essential proteins. The types of mutations include: • Missense mutation: This type of mutation is a change in one DNA base pair that results in the substitution of one amino acid for another in the protein made by a gene. • Nonsense mutation: A nonsense mutation is also a change in one DNA base pair. Instead of substituting one amino acid for another, however, the altered DNA sequence prematurely signals the cell to stop building a protein.

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3-Methylcrotonyl-Coenzyme A Carboxylase Deficiency - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker


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