 |
|
|
 |
Number please |
|
| --Georgirene
D. Vladutiu, Ph.D. |
|
|
|
| From the time that the human
CPT2 gene was cloned and sequenced in 1991, investigators have regularly reported new disease-causing mutations. It is now possible to identify more than 40 mutations, the most common of which, Ser113Leu, is found in about 60% of the mutations detected in patients. At least 100 and as many as 250 individuals with CPT II deficiency have been reported in the medical literature in the last decade. Carnitine palmitoyl transferase deficiency was first described in 1973, and by 1986, 39 patients with CPT deficiency were known or reported. At least 20 additional patients were reported between 1986 and 1990. |
|
| Dr. Vladutiu is Associate Professor of Pediatrics, Neurology and Pathology at the State University of New York at Buffalo School of Medicine. The recipient of an MDA research grant, her recent work has focused on molecular genetic studies of carnitine palmitoyltransferase deficiencies. |
|
|||
| Related
links: CPT II allelic variants OMIM technical summary of CPT II mutations. Gene CPT2 Links to CPT technical information on phenotypes, polymorphisms and other data. Why so many errors in our DNA? Blazing A Genetic Trail explains the answer in everyday language.  For more about CPT2 mutations, including links to the original reports, see
Keep the change. For more about the number of CPT IIdeficiency patients, see Significant others and Where in the world. |
|
|
|
|
|||
Much of our DNA is riddled with errors. We inherit hundreds of
genetic mutations from our parents, as they did from their
forebears. In addition, our DNA undergoes about 30 new mutations during our
lifetime, either through mistakes during DNA copying or, more
often, because of damage from the environment. Fortunately, most of these errors are
harmless. 
