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Ereditarietà della Malattia Celiaca

Celiac disease is transmitted to children? How?

If you did, a doctor, a question like that, I guess that the answer was not very understandable.

Me too, until I studied a bit of genetics at the university, I had very clear ideas.

speech is actually a fairly simple and involves genes, but not limited to those.

As we saw in the post and Celiac Disease HLA , even if you possess the genes called "typical" of celiac disease, That does not mean that the disease has been unleashed, as well as not to get to 100% does not rule out that there could be ill.

There is a first major subdivision of genetic diseases:

• monogenic (single gene mutation)
• multifactorial (non-Mendelian or complex, in which there are many genes and is stronger than the influence of environmental).

In the former, the presence of a single gene is absolutely a given diagnosis. Not only that. The diagnosis can be performed at birth (or even prenatal).

It 's the case of diseases such as thalassemia (or Mediterranean anemia), o meno gravi, come l'albinismo.
E' possibile anche prevedere l'ereditarietà della malattia, tramite le leggi di Mendel [1].

Nelle seconde invece, i genti che vengono coinvolti sono moltissimi e quasi sempre non si conoscono tutti.
Assolutamente nessuno di questi geni è necessario o sufficiente per sviluppare la malattia; la loro presenza aumenta solo la probabilità di svilupparla.

Lo scatenarsi o meno della malattia dipende da meccanismi ambientali, esterni al DNA, in grado di attivare i geni coinvolti.

I geni infatti, anche se presenti, devono essere "attivati" o, in gergo, "espressi".

Coeliac disease and autoimmune diseases such as autoimmune thyroiditis, rheumatoid arthritis, Crohn's disease, etc. .. are multifactorial diseases.

Inherit the Celiac or not, is not currently expected, since this disease does not follow the Mendelian rules.

Carry an intervention by Prof. Maria Cristina Mazzilli (Professor of Genetics, La Sapienza University in Rome) to the AIC Conference on Celiac Disease of 07/03/2009 [2] [3].

Professor speaks in the first part of how to interpret the data and HLA in the second, provides the results of a search, always on HLA.
In summary, research reports that HLA covers only 40% of cases of disease while other HLA genes may play a role in the development thereof.

In this study, a cohort of children and controls, it is evidenced that:

• 81% of these cases had the DQ2 DQ8
• 10% 9% this
• neither the one nor the other.

Of this 9% (nearly 1 in 10), 6% dimer only the DQB1 * 02, 2% had only the dimer DQA1 * 05, while the remaining 1%, none of the known dimers.

The risk, therefore, made up by having a positive HLA consists in 'having about 51% more likely to contract the disease than those without predisposing genes.

And, as we have seen, have a gene does not mean that it is "active".
gene activity is given by the adjustment mechanism. And
'This is the mechanism currently most studied in genetics.

[1] http://it.wikipedia.org/wiki/Gregor_Mendel
[2] http://www.youtube.com/watch?v=IM9QNxYt5uQ
[3] http://www.youtube.com/watch?v=CScfVBWITLU