Get Abetalipoproteinemia - A Bibliography and Dictionary for PDF
By Philip M. Parker
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Additional resources for Abetalipoproteinemia - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers
The most common form of aneuploidy is trisomy, or the presence of an extra chromosome in each cell. “Tri-” is Greek for “three”; people with trisomy have three copies of a particular chromosome in each cell instead of the normal two copies. Down syndrome is an example of a condition caused by trisomy—people with Down syndrome typically have three copies of chromosome 21 in each cell, for a total of 47 chromosomes per cell. Monosomy, or the loss of one chromosome from each cell, is another kind of aneuploidy.
The effects of these conditions are most pronounced in organs and tissues that require a lot of energy (such as the heart, brain, and muscles). Although the health consequences of inherited mitochondrial DNA mutations vary widely, frequently observed features include muscle weakness and wasting, problems with movement, diabetes, kidney failure, heart disease, loss of intellectual functions (dementia), hearing loss, and abnormalities involving the eyes and vision. Mitochondrial DNA is also prone to noninherited (somatic) mutations.
Comparison of cells from normal subjects and patients with homozygous familial hypercholesterolemia and abetalipoproteinemia. Author(s): Ho YK, Faust JR, Bilheimer DW, Brown MS, Goldstein JL. Source: The Journal of Experimental Medicine. db=pubmed&cmd=Retrieve&dopt=A bstractPlus&list_uids=194011&query_hl=9&itool=pubmed_docsum 26 Abetalipoproteinemia • Regulation of cholesterol synthesis by plasma lipoproteins from patients with abetalipoproteinemia. Author(s): Alam NA, Illingworth DR, Sundberg EE, Alam SS.