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Steps Forward in Clinical Genetics

As I promised I’m here again to keep you up-to-date about the wonderful realm of clinical genetics. While there is a shortage of geneticists in the US and in other parts of the world as well, we can see some improvements regarding certain medical conditions. Let’s start with fragile X syndrome.

Fragile X syndrome is the most common cause of mental retardation. As Wikipedia says:

Mutation of the FMR1 gene leads to the transcriptional silencing of the fragile X-mental retardation protein, FMRP. In normal individuals, FMRP binds and facilitates the translation of a number of essential neuronal RNAs. In fragile X patients, however, these RNAs are not translated into proteins.

Original source: Wikimedia Commons under Free Art License

The researchers of the Picower Institute for Learning and Memory at MIT have reversed symptoms of mental retardation and autism in mice. The FMRP protein binds to the mGR5 receptor on the surface of brain cells. A drug that inhibits the receptor may be useful in treating young Fragile X patients in the future. Check out the great report of Kristina Chew at AutismVox.

Second, FDA approved Kuvan for treatment of phenylketonuria (PKU), an other main cause of mental retardation.

Kuvan works by increasing phenylalanine hydroxylase enzyme activity in PKU patients with some residual PAH enzyme function. This then leads to an increased breakdown (metabolism) of phenylalanine (Phe), resulting in lower levels of Phe in the blood.

And last, but far not least, here is a fantastic article about mutations in breast cancer at Open Medicine. Kelly A Metcalfe and Steven A Narod present a common case and tell us how to help the patients with specific and accurate information or risk. Some weeks ago, Ramunas at Cancer-Genetics shared BOADICEA, a breast and ovarian cancer risk/mutation probability calculation web-application, with us.


And Hsien-Hsien Lei at Eye on DNA presented Opaldia, a genetic testing company that will offer the Diagenic breast cancer blood test in 2008.

The test detects gene expression patterns in peripheral (circulating) blood and is touted as being able to diagnose asymptomatic breast cancer before it can be detected by manual breast exam or mammograms.

Aren’t these announcements fantastic? Or am I too optimistic?

3 Comments Post a comment
  1. Ian B Gibson #

    According to the figures I have, trisomy 21 is the most common cause of mental retardation, although perhaps you just meant to include specifically genetic (as opposed to chromosomal) causes?

    January 8, 2008
  2. According to my book of pediatrics, the most common cause is Fragile X and Down-syndrome. But I’ve read several versions of it.

    January 8, 2008

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