Sforzi sulla compresione dell'ereditarieta' della Alopecia A

[Angus]

Per un povero idiota analfabeta che non ha capito niente... non è che ci sia qualcuno che può tradurre le cose importanti?? grazie...

ciao gente!

[Lottatore]

Riporto un post su uno dei tanti studi atti alla compresione del meccanismo di ereditarieta':

 

Genetic Secrets of Baldness Slowly Receding Fri May 31,11:58 PM ET By Kathleen Doheny HealthScoutNews Reporter

 

FRIDAY, May 31 (HealthScoutNews) -- Men and women with disappearing hairlines don't yet have reason to cheer, but the baldness puzzle may be a bit closer to a solution.

 

 

Scientists from Johns Hopkins University School of Medicine and CNRS-Institut Pasteur in France have developed a mouse model of inherited baldness. They hope this genetically engineered model will further their current understanding -- which is sketchy -- of why some humans go bald as they age but others maintain a healthy mane throughout life.

 

"I would not and could not say we've found the cause of human baldness," says Pierre Coulombe, a professor of biological chemistry and dermatology at Hopkins and lead author of the study appearing in tomorrow?s issue of Genes & Development. Rather, he is hopeful they have found something to build on in future research.

 

Hereditary hair loss is the most common form of hair loss and affects about 50 million men and 30 million women in the United States, according to estimates from the American Academy of Dermatology.

 

Coulombe's team engineered mice to lack the gene that encodes a specific keratin protein. Keratin proteins are found in the hair, nails and epidermis of people as well as in the fur, feathers, and hooves of animals. In all, there are nearly 30 keratin genes just in the hair follicles, and Coulombe's team discovered that a defect in just one of them -- called keratin 17 (K17) -- could make mice go temporarily bald.

 

Mice in whom the K17 gene was removed did not grow fur within the first few weeks of their lives, as mice with the gene normally do. However, at about three weeks old, the mice with the removed K17 gene did begin to grow fur, Coulombe says. The researchers found out that another keratin gene, K16, activated in response to the absence of the K17 gene. It took over, and compensated for the loss.

 

"In these mice lacking the K17 gene, the hair is not growing normally for two reasons," Coulombe says. "The hair may be fragile. And a subset of hair cells is committing suicide -- it's pre-programmed cell death."

 

Humans with defects in K17 have problems with their nails, sebaceous glands -- glands that empty into a hair follicle and secrete sebum, which includes fat, keratin and cellular material -- and hair, Coulombe says. Their nails grow abnormally thick. Their sebaceous glands are enlarged, and their skin has a bumpy appearance. Their hair is also twisted and breaks easily, he says.

 

This is not the first mouse model of baldness, Coulombe says, noting that other scientists have also developed models.

 

"There's no such thing as one baldness model," he says. "There are multiple reasons for baldness. Hair is such a complicated structure."

 

A hair loss expert familiar with the study praised it, but had a caveat.

 

"This is an excellent study which increases our understanding of how an individual who may lack one gene necessary for normal keratin production may compensate with another gene," says Dr. Richard A. Strick, a clinical professor of dermatology and medicine at the University of California, Los Angeles, School of Medicine. "And it also furthers our understanding of the difference in expression of a genetic abnormality between individuals who have that defect. However, this study does not in and of itself explain any of the common types of hair loss in people. Nor does it provide an animal experimental model for any major type of alopecia [hair loss] in humans."

 

However, Coulombe says that is a matter of opinion.

 

"Understanding how the baldness occurs in these mice might help us understand how it occurs in humans. There is no human baldness condition to which this [mouse model] corresponds. [but] our group has identified a gene that plays an important role in the formation of hair at the late stage," he says.

 

The new model, he adds, is going to help explain how hair tissue is produced in the first place and how it oscillates between growth and rest phases. The model might serve as a generic model rather than a specific one, Coulombe says.

 

In the meantime, he adds, "We'll take what we can get."

[CAPEJUS]

Ad una velocissima lettura dice che la causa dell'alopecia androgenetica è da imputare al funzionamento del gene responsabile della keratina k 17 il quale fa si che i capelli siano + fragili e che addirittura compiano una specie di suicidio...cioè sono capelli destinati a morire molto presto!!Ma non è detto che sia questa la vera causa dell'alopecia!!!CIAOOOO!!!!!!!!!1

[frenc]

andiamo bene.ci vorranno 100 anni prima che ne vengano a capo.

diventeremo prima immortali.

ma cxxxx sti capelli non potrebbero restare in testa a tutti e che ne so cadere quelli sull'uccello.tanto che ce frega.

[Lottatore]

xxxxx grazie per le risposte,

 

Io credo che 100 anni siano troppi, secondo me se INVESTIRANNO in ricerca io dico che nel 2010 avremo il primo tentativo di terapia genica in funzione.

 

E' questione di soldi qui, e' tutto chiaro. Ma se internet ha aperto le porte le le bocche di tutti noi, io credo che i prossimi 10 anni saranno il breakthrough ...

 

in ogni modo questo polimorfismo genico cxxxx sara' complicato, ma NON imposssibile, vedrete che qualcuno ne verra' a capo presto.

 

Ah tra l'altro ci sono anche societa' di ricerca private che CERCANO PERSONE con problemi di alopecia per farsi inviare un loro campione di DNA, ne ho beccata una due mesi fa su internet, faro' una ricerca se e' di interesse comunichero' i link.

 

Lott.

[Angus]

Grande Lott! Sei un mito! Facci sapere questi link! Collaborare personalmente per lo sviluppo e la ricerca è il minimo che ognuno di noi può fare! Perchè se non lo facciamo noi che siamo i diretti interessati... Anch'io confido molto nella terapia genica, anche perchè sarà l'unica in grado di risolvere il problema COMPLETAMENTE (foltezza, bellezza, ecc..) Chissà quanto ci vorrà, speriamo poco...

Nel frattempo cerchiamo almeno di renderci utili! A me non costerebbe niente inviare il mio DNA! Magari potrebbe servire a qualcosa no? Molto spesso le scoperte in questo campo avvengono quasi casualmente, grazie all'analisi di casi isolati che per qualche strana particolarità risultano più facili da studiare! Magari se ognuno di noi desse il proprio contributo contribuiremmo efficacemente ad accelerare le ricerche... Non credete anche voi? Ciao gente!

[Angus]

ah, dimenticavo.. grazie per la rapida traduzione capejus! ciao!

[CAPEJUS]

Prego!!!!!Ma non c'è bisogno di ringraziare....se non ci aiutamo tra di noi!!!Ciaoooooooooooo!!!!!!!!!

[Lottatore]

Grazie xxxxx, mi fa piacere che la discussione sia interessante.

 

A dire la verita' la mia impressione e' che ci sono MOLTI validi ricercatori che stanno andando davvero avanti sul primo passo, QUELLO VERO, della terapia genica: collaudare un test per la MPB: un semplice test che sia in grado grazie a un semplice campione di sangue di dirci: si, avete i geni del Male Pattern Baldness o no.

 

Sto cercando appunto in rete chi si sta occupando di questo importantissimo passo. Oggi ho trovato questo dalla NBC australiana, ve lo pubblico qui.

 

Credo inoltre che una delle ricercatrici piu' avanti in questo senso e' Angela Christiano. L'intervista qui sotto e' invece con la dottoressa Justin Ellis di Melbourne che pare abbia proprio in Maggio 2001 identificato UNO dei geni responsabili del MPB.

 

Vi ricordo che per ora la ricerca in poche parole ha trovato solo:

 

- il baldness gene della Alopecia Universalis. Questo gene e' correlato solo a questa RARA forma di alopecia totale di cute, pelle, peli, tutto che non ha a che fare con la alopecia androgenetica classica.

 

- Alcuni ricercatori hanno trovato nei topi un marker per invertire il processo di perdita dei peli nei topi, e stanno tentando ( pare anche con successo parziale ) di usare dei farmaci che rilasciano una particolare sostanza localmente nei nuclei dei follicoli per ribaltare i geni 'sbagliati'. Qualora anche ci riescano, e' universalmente noto che la struttura dei follicoli piliferi ( derma papilla, capello, ghiandola sebacea, recettori, ecc. ) negli esseri umani e' molto, molto piu' complessa di quella dei topi.

 

Per quello che ne so di ufficiale, questo e' tutto.

 

Vi attacco ora l'intervista sulla NBC australiana.

 

Lott.

 

--------------------------

Innovations 13 - 15 May 2001

 

FIRST BALDNESS GENE

 

BLANCH : Australian researchers have discovered the first gene to be associated with male baldness. The discovery of the gene called the androgen receptor was made as part of the Victorian Family Heart Study. The research team traced the gene in an analysis of potential coronary risk factors including baldness. The Melbourne team's discovery has been reported in the latest edition of the Journal of Investigative Dermatology with Dr Justine Ellis as one of the co-authors.

 

So Justine, it's been said that mothers can be blamed for their son's baldness, but is this yet another case of blame allocation or is there some truth to this?

 

ELLIS : Well, the gene that we found to be associated with baldness actually lies on the 'x' chromosome and in men the 'x' chromosome comes only from the mother, so therefore this gene that does appear to be associated with baldness is actually coming from mum, so I guess there is some blame to put to mum.

 

BLANCH : Well, you assessed more than 1200 men for degrees of baldness, so what does cause baldness in men?

 

ELLIS : Okay well, that's the big mystery. It's a genetic disorder that's passed down through families and the genes which are actually changed or mutated in the men that go bald compared to the men that don't, are still quite unknown and this is the first gene that has been located that actually does seem to contribute to baldness.

 

BLANCH : And testosterone comes into it, is that what's been long thought?

 

ELLIS : Well, that's right, testosterone or its most potent form dyhydrotestosterone appears to be increased in the follicles which lose their hair on balding men's scalps and, what the role of the androgen receptor in all of this is that the androgen receptor actually reads the message that the testosterone (or the dyhydrotestosterone) that those androgens are actually in the cell and then it goes along and finds genes which are responsive to testosterone and turns them on or off, depending on their response to the androgen.

 

BLANCH : So what results did your study give you, how common was the androgen receptor gene marker?

 

ELLIS : Okay well, the androgen receptor gene marker was found in 98 per cent of men under the age of 30 who had cosmetically significant baldness and if I can just explain that - cosmetically significant - is baldness which is quite obvious on either side of the front of the scalp. So we found that the marker was in 98 per cent of men under 30 and also greater than 90 per cent of men over the age of 50 who were balding, so it would appear that it's fairly unlikely that you will go bald without this particular marker.

 

BLANCH : So do you think the androgen receptor gene is a cause for baldness?

 

ELLIS : It's one of the causes for baldness we think. The marker is actually found in a fairly high number of men who at the age of around 50 or 55 hadn't gone bald yet. Now what that suggests is that, whilst you probably almost have to have the change in this particular gene to go bald, you can also have the change in the particular gene and not go bald but that suggests that you don't have other factors with it, other genes or particular levels of testosterone in your body. If you don't have all those other things together with the androgen receptor gene you may not still go bald, so it's necessary but probably not sufficient to cause baldness on its own. So there's still plenty of things to search for out there to exactly work out why men are going bald.

 

. BLANCH : Yes I was about to ask you what is the challenge now to scientists now that this gene has been discovered?

 

ELLIS : Okay well, there are a few challenges. The first one is that we found a marker within the androgen receptor gene which appears to be associated with baldness, but that marker itself is not actually causing the baldness, it's not a change in the DNA which causes a change in the protein, so the first thing we need to do now is, actually find a mutation, a change in the DNA within the androgen receptor that is actually causing the predisposition to baldness, that's the first thing we need to do. Now the second thing we need to do is find those other factors that go together with the androgen receptor and cause baldness. Now these may vary from individual to individual. And then the third thing we need to do of course is design effective treatments. These treatments might involve changing what is wrong with the androgen receptor or blocking the androgen receptor, but it will also involve designing treatments for individuals depending on which particular genes are a problem for them and that are causing their baldness.

 

BLANCH : These days it may not be such a difficult task to find that exact mutation that you were talking about, is that the way it is?

 

ELLIS : Well, there are lots of different ways of finding mutations. It really depends on, in the first instance, how much of the androgen receptor or the surrounding areas have actually been sequenced by other researchers before. So the easiest way that we can work is if other people have actually sequenced those areas and we can go in and compare the exact sequences of the DNA around the androgen receptor in people who are bald and people who aren't bald. And with the latest technology and automated sequencing machines and so forth it's a fairly quick process but it doesn't always give you the answer that you think it will.

 

BLANCH : So how close are we to a genetic test for baldness do you think?

 

ELLIS : Although we haven't actually pinpointed the exact mutation that causes the change in the androgen receptor, we do know that, if men have this marker they are very likely to go bald. So if you don't have the marker it's unlikely that you will go bald, so at this stage the position that we're at is that, we could look at the marker in men and be able to tell them that they probably won't go bald if they don't have this particular marker, that's the point we're at at the moment. If we can actually define the mutation that is the difference between men who are bald and men who aren't, then we'll be able to look at that particular mutation and give people a better answer, but as I said before, there are a lot of other factors that go together with the androgen receptor to cause baldness and until these are found we can't do a definitive test for baldness just yet.

 

BLANCH : Tracking down the first gene linked with baldness, so gentlemen if you really want to know whether baldness is in store for you, Dr Justine Ellis from the University of Melbourne is the one whose on the case.

[Lottatore]

Ecco xxxxx, l'ho trovata !!!

 

Premetto: non so nulla sulla serieta' di questa societa' che tra l'altro si rende ANONIMA dicendo che e' lo Skin Biology Center di una 'major pharmaceutical company'.

 

In ogni modo ci sono le e-mail, per contattarli. Stanno cercando persone x le loro ricerche.

 

Magari sarebbe interessante contattarli per sapere qualcosa di piu', o trovare iniziative di ricerca aperte, con simile attitudine: riporto il sito:

http://www.thethinker.com/baldgene/

 

Saluti.

[frenc]

queste tue parole un po' mi danno speranza.

 

grazie

 

spero tanto che tu abbia ragione,sarebbe davvero bello.

 

ciao a tutti