63 mutações associadas a Cancro da Próstata

http://www.dailymail.co.uk/health/article-5830677/amp/Prostate-cancer-breakthrough-DNA-test-identifies-men-likely-develop-disease.html

Álcool provoca mutações genéticas em células estaminais...

E os dois níveis de protecção que o vão evitando:
https://www.theguardian.com/science/2018/jan/03/alcohol-can-cause-irreversible-genetic-damage-to-stem-cells-says-study

Citando:
"During the past decade, there has been mounting evidence of the link between drinking and the risk of certain cancers.

Alcohol is a direct cause of seven forms of cancer, finds study

“This paper provides very strong evidence that an alcohol metabolite causes DNA damage [including] to the all-important stem cells that go on to make tissues.”

(...)

The latest work showed that acetaldehyde slices through DNA, causing permanent damage, if the effects of the toxin are not neutralised by two natural defence mechanisms. The first tier of defence clears away the acetaldehyde and the second repairs the DNA damage.

By genetically “knocking out” these two layers of defence, scientists were able to show DNA damage accumulating until cells eventually stopped working entirely.

The study revealed that DNA damage was exacerbated when mice lacked the first tier of defence – a protective enzyme called aldehyde dehydrogenase 2 (ALDH2), which prevents potentially toxic build-ups of acetaldehyde. About 8% of the world’s population, mostly those of East Asian ancestry, have an inherited deficiency in ALDH2 (sometimes known as the flushing mutation), which could explain the high prevalence of oesophageal cancers in countries such as China."

Mutação genética leva a insensibilidade à dor

E a sua compreensão pode ajudar ao problema oposto" (dor crónica):
http://www.newsweek.com/rare-genetic-mutation-causes-entire-family-feel-no-pain-750495

Citação:
"Their mysterious condition—called congenital analgesia— has puzzled scientists, but now a team of European researchers believe they’re one step closer to understanding the underlying mechanism."
(...)
"In their study, published in the journal Brain, the researchers found that mice with genetically altered ZFHX2 genes also had altered pain thresholds of hot and cold. However, other characteristics seen in the Marsili family—such as low sensitivity to pain—were not observed in the mouse model. Despite more research being needed, the team’s new findings could help propel research for chronic pain—a problem which affects more than 25 million Americans, according to the National Institutes of Health."

Estudo de Glioma identifica mais mutações associadas a Glioma

http://www.mirror.co.uk/lifestyle/health/brain-cancer-cure-hopes-breakthrough-10110854

Citação:
"The international study - the biggest genetic investigation of brain cancer ever conducted - analysed DNA data from more than 30,000 participants with and without glioma.

Results from two new genome-wide studies looking at a person’s entire genetic code were combined with findings from six previous studies.

Of the 13 previously unknown genetic changes linked to glioma, one increased the risk of developing the disease by a third and the rest by at least 15% each.

The mutations affected nerve cell multiplication, DNA repair, protein production, inflammation, and the “cell cycle” - the series of events leading to cell division."

Despenteamento crónico?

A culpa é dos genes:
http://www.dailymail.co.uk/sciencetech/article-3947740/Do-bad-hair-genes-Scientists-discover-three-mutations-cause-uncombable-hair-syndrome.html

Mutações genéticas por tabaco - Estudo

http://www.dailymail.co.uk/health/article-3902574/Smoking-pack-day-causes-150-mutations-lung-cell-research-shows.html


Citando:
"'Before now, we had a large body of epidemiological evidence linking smoking with cancer, but now we can actually observe and quantify the molecular changes in the DNA,' he added.
Mike Stratton, who co-led the work at Britain's Wellcome Trust Sanger Institute, said it was a bit like digging in to the archaeology of each tumour.
'The genome of every cancer provides a kind of archaeological record, written in the DNA code itself, of the exposures that caused the mutations,' he said. "

Fumar provoca alterações duradouras no ADN

http://m.huffpost.com/uk/entry/uk_57e39f9fe4b0db20a6e85f4e
Citando:
"A new study has shown that smoking causes DNA methylation – a cellular process, which modifies the function of DNA – in as many as 30% of genes in the human body.



Quitting will benefit your health in other ways, [but] even three decades after stopping, some smokers still had persistent methylation sites in numbers never seen in non-smokers."


Estudo:
http://newsroom.heart.org/news/smoking-leaves-historical-footprint-in-dna

Mutação de gene associada a certo tipo de Esclerose Múltipla

http://www.bbc.com/news/health-36416531
Citando:
"The mutation is in a gene called NR1H3, which makes a protein that acts as a switch controlling inflammation.
In MS the body's immune system mistakenly attacks the protective layer of myelin that surrounds nerve fibres in the brain and spinal cord, leading to muscle weakness and other symptoms."
(...)
"The researchers believe stopping the inflammation early might prevent or delay the disease. They already have drugs in mind that might do this by targeting the NR1H3 gene pathway.
These drugs are in development for other diseases, including cardiovascular disease and diabetes."
(...)
"[This MS] variant itself is rare and most people with MS won't have it. "

40 genes mutados e 10 tipos de cancro da mama

http://www.dailymail.co.uk/health/article-3583335/FORTY-mutated-genes-blame-10-different-forms-breast-cancer-experts-discover.html