Annyone here adept at genetics?

[sabaku_no_gaara]

Some time ago they took some skin and blood from me to study.

And I have been told I do have Osteogenesis imperfecta (I allready knew this) Type I (I was told years ago I was a type IV)

annyway they found this:

p.Gly377AlafsX164 mutation in the COL1A1 gene

It sais

Result:
Sabaku is heterozygote for the c.1128delT (p.Gly377AlafsX164) mutation in exon 17 of the COL1A1 gene

Conclusion:
Sabaku shows the p.Gly377AlafsX164 mutation in COL1A1. A diagnose of Osteogenesis imperfecta was therefore confirmed on moleculair level.

Genetic consulation is adviced



So what exactly is this mutation, how much is known of it? Can this be removed from a "bloodline" to ensure my future children don't have it?

I have a daughter she might have it, (she wasn't planned) we should study her aswell, but I'm scared of what the result will show.


why do they name this things so complicated?

[Phier]

You are heterozygous so your daughter has a 50/50 chance of having it. Its a dominant gene and yes you are correct she should be tested.

There is no way to really remove it from your bloodline unless you are lucky with your children or perform amniocentesis and abort any fetus with the gene.

Mild cases will be a bit more prone to bone fractures, severe cases are very prone to fractures and can even go deaf. Basically it affects your bodies ability to create collagen which has its biggest effect on bones, but also teeth, and other systems can be effected. Type 1 is the most common and least severe type.

Being its rather common (type 1) there is a lot of info out there on it, support groups, and experimental therapy being done.

[sabaku_no_gaara]

yeah I need to go to the hospital the 30'th for bone check up and experimental medical treatment. Because my professor found it strange that I'm still verry prone to fractures at the age of 29. In my youth this stuff didn't exist, medication, therapy etc...

I have mild hearing problems, and I fracture easy, with over 70 fractures throughout my life.

My daughter has mild discoloring of the sclera, so I'm worried, but then again, she's 7 months and hasn't had a fracture yet, whereas I had my first fracture at about 6 months. And my sister has a discoloration of the sclera but never broke a bone in her life.

The mutation is less likely to affect woman I heared.


Is there any research being done into this? genetic mutation etc... removal of hereditary afflictions etc...?

I heared scientists can do a lot these days.

[Copperknickers II]

Is there any research being done into this? genetic mutation etc... removal of hereditary afflictions etc...?

I heared scientists can do a lot these days.

There is indeed research, that is the main focus of genetics research. You can to a certain extent 'cure' a lot of these things, through various means, for example the 'reprogramming' of cells using compex methods involving nanotechnology and artificial viruses.

It is however impossible to remove hereditary afflictions. Or rather, a genetic disease is caused by a mutation that is then carried on hereditarily. You could theoretically (providing you had contacts in North Korea, where they don't bother with medical ethics or patient wellbeing) get the mutation removed, but there would still be nothing to stop such a mutation from being passed on again in the process of fertilisation.

[Ludicus]

My daughter has mild discoloring of the sclera, so I'm worried, but then again, she's 7 months and hasn't had a fracture yet, ... And my sister has a discoloration of the sclera but never broke a bone in her life.

In almost all cases, mode of inheritance is dominant.
Well, probably a mild form, type I (although precise typing is often difficult). As you know, people with osteogenesis imperfecta have a high tolerance for pain, right? So, old fractures can be discovered in infants only after radiographs are obtained for other reasons.

[Elfdude]

I don't believe there exists gene therapy yet. Once we can use a retro virus or something to snip out the gene and replace it with a working copy then you'll have a cure. Until then you more or less just have to deal with treating the symptoms.

Gene therapies are just starting clinical trials for things like blindness etc. Give it a decade or two and they might have a cure for you available though it could turn out to be more difficult than we think.

[Phier]

The problem isn't just snipping it out, but adding the fix, in just about every cell in the body, after all we are talking about collagen.

Sadly we are no where near this stage yet, everything is very theoretical.

[Copperknickers II]

The problem isn't just snipping it out, but adding the fix, in just about every cell in the body.

Exactly. Technically, it would be pretty 'easy' to genetically engineer a single sperm/ovum and have an IVF baby that would be free of any hereditary disease you wanted removed (provided they knew what the genes were that were causing it of course).

We do that sort of thing all the time with glow-in-the-dark-mice etc, by simply adding/removing chromosomes or genes with enzymes. But that would of course require the genetic engineering of a human being, which is currently illegal in most countries, which is what i was referring to by contacts in North Korea.

[sabaku_no_gaara]

Exactly. Technically, it would be pretty 'easy' to genetically engineer a single sperm/ovum and have an IVF baby that would be free of any hereditary disease you wanted removed (provided they knew what the genes were that were causing it of course).

We do that sort of thing all the time with glow-in-the-dark-mice etc, by simply adding/removing chromosomes or genes with enzymes. But that would of course require the genetic engineering of a human being, which is currently illegal in most countries, which is what i was referring to by contacts in North Korea.

Why is it illegal?

Think of all the people they can help! All the lives they can improve!

Will it ever be Legal?

[Phier]

Why is it illegal?

Think of all the people they can help! All the lives they can improve!

Will it ever be Legal?

Its illegal because with our current state of understanding we are more likely to create defects than fix them, only unlike a lab animal they will be humans with this induced defects.

[Adar]

Heres the issues Phier is referring to:

More recently gene therapy has been attempted as an alternative to the bone marrow transplant. Transduction of the missing gene to hematopoietic stem cells using viral vectors is being tested in ADA SCID and X-linked SCID. In 1990, 12-year-old Ashanthi DeSilva became the first patient to undergo successful gene therapy. Researchers collected samples of Ashanthi's blood, isolated some of her white blood peripheral T cells, and incorporated into them a virus engineered to contain a healthy immune system enzyme: adenosine deaminase (ADA) gene. These cells were then injected back into her body. She is now given a weekly shot of ADA that without would have her destined for a life of isolation. In 2000, the first gene therapy "success" resulted in SCID patients with a functional immune system. These trials were stopped when it was discovered that two of ten patients in one trial had developed leukemia resulting from the insertion of the gene-carrying retrovirus near an oncogene. In 2007, four of the ten patients have developed leukemias [11]. Work is now focusing on correcting the gene without triggering an oncogene. No leukemia cases have yet been seen in trials of ADA-SCID, which does not involve the gamma c gene that may be oncogenic when expressed by a retrovirus.

Trial treatments of SCID have been gene therapy's only success; since 1999, gene therapy has restored the immune systems of at least 17 children with two forms (ADA-SCID and X-SCID) of the disorder.
Source

I pasted wikipedia since it explains it in layman terms. Researchers are however working with viral vectors who are more specific in where they put the gene. The cancer problem was caused becuase of the virus sometimes inserting the gene in a place where it contributed to people getting cancer. By being more specific we should be able to avoid those issues.

[Copperknickers II]

Why is it illegal?

Think of all the people they can help! All the lives they can improve!

Will it ever be Legal?

Allowing the genetical engineering of a human zygote would be tantamount to legalising cloning and eugenics programs. The reasons it is currently illegal are

1. Religious types think it is 'playing God' and therefore immoral.

2. As has already been stated, technology is not currently good enough to ensure that the embryo would not develop into a pathological mutant.

This technology is unlikely to improve very quickly unless the first problem is taken care of, that is, we can start regarding unborn embryos as sub-human and therefore can test these things on them.

[sabaku_no_gaara]

I see.

Thanks for the replies

[Phier]

I wouldn't trust the NK's to properly retread a tire, so I'd keep them away from my genome.

[hollowfaith]

Wow mate! You have to be one tough hombre to deal with this. I applaud you for your strength. I wish all the best for you and your little one!

[mp0295]

Wait is the mutant gene recessive? Because if it is and you're heterozygous that means you're only a carrier. Or have a lesser case of it. So assuming your partner is homozygous dominant, that would means your daughter has a 50/50 shot at being a carrier. Means shes might be heterozygous like you, or not have it at all.

Usually if your heterozygous you dont actually express the gene, or a much reduced form like in with sickle cells. Tell me if im wrong, im just going on what ive learned in class.

[Copperknickers II]

Wait is the mutant gene recessive?

No, its dominant.

[mp0295]

No, its dominant.

Well then completly disgregard everything i said haha. I googled it but then i only read what it was, not if it was revessive or dominant. Oh lazy me

[Angrychris]

I helped make a son once.

[sabaku_no_gaara]

High tolerance for pain?

I'm a whiny sissy when it comes to pain