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Author Topic: Cystic Fibrosis - Curse of the Celts?  (Read 1102 times)
Jean M
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« on: November 13, 2010, 11:03:42 PM »

I'm reposting this here from my blog, for those who don't care to enter the realms of DNA Forums (though you don't need to log in to read my blog).

Cystic Fibrosis is a ghastly disease. Left untreated, most sufferers would die by the age of two. We would expect the mutations that cause anything so deadly to be rapidly bred out of a population. Many mutations have been implicated in Cystic Fibrosis, but the most common is F508del (also known as DeltaF508), causing around 70% of CF cases in Europeans and their descendants. The astonishing fact is that one in every 30 people from central or western Europe has a single copy of this mutation. The same ratio exists in people who migrated from there to the Americas, Australia and New Zealand.

Why is it so common today? Dr. Philip Farrell of the University of Wisconsin School of Medicine and Public Health has a theory. Although carrying two copies of the allele - one from each parent - is a serious misfortune, carrying just one could be an asset. (That is the case for another surprisingly common deadly disease - Sickle Cell Anaemia.) But what could the advantage be?

Ireland has the highest incidence of Cystic Fibrosis in the world, and a carrier frequency of 1 in 19. So is CF the curse of the Celts? Not exactly. CF is found more widely than the spread of the Celts. However a study in Pakistan found the allele F508del in only 17.3% of Cystic Fibrosis sufferers. So that particular allele comes under suspicion of Celtic origin. It was long thought that the Celts spread from Central Europe in the Iron Age, so I can understand why Dr Farrell went looking for F508del in ancient DNA from Iron Age Austria. He found it.* So far the allele has not been found in Bronze Age specimens from the same cemetery.

If the mutation was useful in the age of metal, could metal itself be a clue? The first bronze was made of copper mixed with arsenic. Maikel Kuijpers at Cambridge University is currently investigating whether the age had specialist smiths by looking for signs of arsenic poisoning, such as weakness in the legs and feet. There is some evidence that mice carrying the F508del allele might be resistant to lead toxicity. So Dr. Farrell assembled an international team to look both for CF in aDNA and also signs of exposure to metals.

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The first analyses are showing that specimens containing CF gene defects were not affected by lead or other metal poisoning, hinting at the mutation’s protective advantage. The specimens also contained very little tuberculosis.

The press release on this breakthrough went out on 31 August, but I've only just caught up with the news. The study aims and details have been added to my lengthening list of projects promising clues to past migration. For more technical detail, see CFTR: The Gene Associated with Cystic Fibrosis.

*Farrell P, Le Marechal C, Ferec C, Siker M, Teschler-Nicola, M., Discovery of the Principal Cystic Fibrosis Mutation (F508del) in Ancient DNA from Iron Age Europeans, Nature Precedings, 2007.

** Uzma Shah, Phillipe Frossard, Tariq Moatter, Cystic fibrosis: defining a disease under-diagnosed in Pakistan, Tropical Medicine & International Health, Volume 14, Issue 5, pages 542–545, May 2009. 

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A.D.
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« Reply #1 on: November 13, 2010, 11:20:46 PM »

JeanM
Some years ago ,wasn't there a story about CF originating from somewhere in the Caucuses on the BBC news. It was from a study by a notable Professor. You might want to check ie out. I know there was more to it. This is just something I remembered hearing and know nothing about. I'm only posting this just in case you missed it. Hope it helps.
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Jean M
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« Reply #2 on: November 13, 2010, 11:51:58 PM »

I should add that the percentage of CF patients with the F508del mutation is actually highest in Basques (87%) and the Danes (85%).

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1682450/

http://farrell.med.wisc.edu/activities.html#ancient

« Last Edit: November 13, 2010, 11:54:27 PM by Jean M » Logged
alan trowel hands.
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« Reply #3 on: November 14, 2010, 09:05:00 AM »

Its weird.  I have actually this week just been considering the effect on arsenic on people using the arsenical copper or other sources with dangerous contaminants.  However, I was more interested in the effect on the y than autosomal. 

Before tin alloying, arsenical copper was a natural alloy and that kind of copper was far harder than pure copper, a sort of natural Bronze if you like.  The biggest source of arsenical copper in northern Europe also happens to be likely to be the most important earliest northern European source - Ross Island in SW Ireland (which has beaker associations).  There were many slightly later mines in SW Ireland which although not arsenical, had many impurities, some perhaps dangerous (Mount Gabriel etc). 

There are y-lineages with distributions that could relate to this early SW Irish metalworking and the spread of genes through trade from there.  What I was interested in was whether this could lead to deletions/changes on the y-chromosome.  On googling this I discovered there had been studies on this in India although they seem to play down the effect on the Y I think the possibility of some effect on the y remained (I was a bit too busy to read them properly and need to read the reports a bit closer). 
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alan trowel hands.
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« Reply #4 on: November 14, 2010, 09:30:03 AM »

oh and as well as copper and later Bronze working, Ireland was also something really special in terms of gold in the Bronze Age.  Early sources have been suggested in the Sperrins in in central Ulster and also recently the Mournes in county Down as well as other places. The importance of Ireland in copper, bronze and gold waxed and waned in a way that has not really been worked out in detail yet although progress is slowly being made.

One other thought on the poisoning issue, I know that the slightly later in the post-Ross Island phase of SW Irish copper mining (roughly 2000BC-1400BC from memory) that it was based on a folksy seasonal rough and ready sort of mining.  Kind of suggestive of a lot of people being involved in the extraction phases at least.  I do recall that these later mines often had a lot of serious impurities.  I am not clear if the mining itself threatened people in terms of contaminants or if it was the processing stage. 
« Last Edit: November 14, 2010, 09:35:13 AM by alan trowel hands. » Logged
Jean M
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« Reply #5 on: November 14, 2010, 10:47:00 AM »

Yes I know about Irish gold. :)  I have a brief reference to it in P of E under The Celts of the British Isles:

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To judge by chemical composition, copper from Ireland was traded into Britain*, along with gold from the Mourne Mountains.*

  • J.P.N. Northover, W.O’Brien, and S. Stos, Lead Isotopes and Metal Circulation in Beaker/Early Bronze Age Ireland, Journal of Irish Archaeology, vol. 10 (2001), pp. 25-47.
  • R. Warner et al, in Archaeology Ireland, vol.23, no 2 (2009), pp. 22-25.

And I decided to work in a little more in one of the revisions to the Celtic Tribes page:

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The earliest references to Ireland come from Ancient Greek travellers. Yet these records come at a time when trade with Ireland was in decline, as Europe moved from the Bronze to the Iron Age. Ireland's wealth of copper (a necessity for bronze), as well as gold, had brought prosperity. Goldsmiths flourished in Bronze Age Ireland, leaving a wealth of jewellery and other art work. Leaner times were ahead....

If you have back copies of  Archaeology Ireland, I would really appreciate the title of the article by R. Warner. I know the gist of what he said, from a press report, but have not seen the actual article.
 

« Last Edit: November 14, 2010, 10:49:08 AM by Jean M » Logged
alan trowel hands.
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« Reply #6 on: November 14, 2010, 01:30:22 PM »

Yes I know about Irish gold. :)  I have a brief reference to it in P of E under The Celts of the British Isles:

Quote
To judge by chemical composition, copper from Ireland was traded into Britain*, along with gold from the Mourne Mountains.*

  • J.P.N. Northover, W.O’Brien, and S. Stos, Lead Isotopes and Metal Circulation in Beaker/Early Bronze Age Ireland, Journal of Irish Archaeology, vol. 10 (2001), pp. 25-47.
  • R. Warner et al, in Archaeology Ireland, vol.23, no 2 (2009), pp. 22-25.

And I decided to work in a little more in one of the revisions to the Celtic Tribes page:

Quote
The earliest references to Ireland come from Ancient Greek travellers. Yet these records come at a time when trade with Ireland was in decline, as Europe moved from the Bronze to the Iron Age. Ireland's wealth of copper (a necessity for bronze), as well as gold, had brought prosperity. Goldsmiths flourished in Bronze Age Ireland, leaving a wealth of jewellery and other art work. Leaner times were ahead....

If you have back copies of  Archaeology Ireland, I would really appreciate the title of the article by R. Warner. I know the gist of what he said, from a press report, but have not seen the actual article.
 



Jean-oh I knew you would know the stuff about Irish gold.  I posted it for others who may not be so up to date with their reading. I will be mucking out my study tomorrow and I will see if that Archaeology Ireland turns up. 

This is the article on arsenic and the y-chromosome.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2923088/
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