Re: proteomics in CMT research

[Guest guest]

Hi Pedro,

Thank you for this news. Below is a rough English translation of the

article. I was not aware that Spain was conducting Vitamin C trials

and I am happy to know this. I hope you will keep us informed of

this research and others. ~ Gretchen

The service of Neurology of Hospital-Foundation for the Investigation

the Faith is carrying out a study on the disease of Charcot Marie

Tooth in which it is developing a formula that facilitates its

diagnosis. One is a rare hereditary neuromuscular disease thaat

damages the nervous system.

The genetics facilitates the diagnosis of the CMT

http://www.gacetamedica.com/gacetamedica/articulo.asp?

idcat=233 & idart=266108

Half of the cases of the disease of Charcot Marie Tooth (CMT) must be

dueto the mutation of a gene that totally is identified. However, it

does not happen the same in the other half of the cases, where there

are more than 30 implied genes, being therefore, very difficult to

diagnose. In this sense, the equipment of investigation of Neurology

of the Hospital the Faith of Valencia, through a project financed by

the Ministry of Health, is developing a formula to facilitate its

diagnosis through genetic study of diverse families.

As doctor explains Jesus Vílchez, head on watch of Neurology of

the mentioned hospital, " until now the clinical methods and the

genetic methods were used much, but now they are being applied

technical of proteómica; that is to say, to identify which are the

proteins that are altered in this illness " . In this sense, it assures

that " it is very important to know the genetic advice the families

with the disease, since they must know the possibilities that they

have to do one profilaxia; everything with the purpose of avoiding

the genetically inherited disease.

In the case of the CMT1A arise in the other percentage since, as it

assures Vílchez, " it is one more a more complicated situation and

the genetic diagnosis is more complex because to make a tracking in a

person of the 30 genes it is technically impossible; he would be

costosísimo and the probability of guessing right would be

mínimal " . "

One of the subjects in which we are working is in trying to orient

these families; in the cases that arrive here, is to look for that

gene and to restrict the genetic study towards that gene " , it says.

The disease of Charcot Marie Tooth is a neurodegenerative pathology

of the peripheral nerves that produces feet ends and a paralysis of

muscles of ascending character that begins in the legs and is

extending to the hands, and that can produce an incapacity and

important do-nothing policy. It is not accidentally a genetic disease

that is inherited of vertical form; therefore, it affects families

and it has a prevalence in the population that varies between 15 and

30 cases by each 100,000 inhabitants. Between the 30 and 40 percent

of the patients it is diagnosed clinically (of generic form) but not

genetically.

At present the treatment of this pathology is purely symptomatic and

of maintenance although, as the head on watch of Neurology of the

Faith explains, " already there are promising therapies; for example,

a very simple and recent one is the clinical test with Vitamine C. "

Massive doses of vitamin C in experimental level can improve the

disease remarkably - it adds; this one is one of the tests that we

are doing, and then, by all means, the genetic therapy " . " There are

developments and forecasts of a drug package and interesting

therapies, it concludes.