One wrong letter
Tay-Sachs disease - an inherited rare condition that results from a recessive allele; a mutation on chromosome 15 of HEXA gene that proves fatal.
Watching the program Cracking The Code of Life, I was particularly touched by the clip One Wrong Letter. The mutation, in the case of Hayden, was caused by a single letter alteration in his DNA. The structure of a protein molecule was disrupted, affecting the breakdown of gangliosites in his nerve cells. Fatty acids accumulated in his brain as a result, swelling and crushing his brain cells, eventually causing blindness, seizures and death. More..
I can't bear to watch the kid suffer. Imagine how tormented the parents must feel; being responsible for their child's suffering yet not being able to do anything about it. But, from a different point of view, I find it quite fascinating that the consequences of a single letter, in a chain constituting more than 3 billion letters, could account for such grave and devastating effects. The documentary's a must-see!
Click for the clip, One Wrong Letter.
Watching the program Cracking The Code of Life, I was particularly touched by the clip One Wrong Letter. The mutation, in the case of Hayden, was caused by a single letter alteration in his DNA. The structure of a protein molecule was disrupted, affecting the breakdown of gangliosites in his nerve cells. Fatty acids accumulated in his brain as a result, swelling and crushing his brain cells, eventually causing blindness, seizures and death. More..
I can't bear to watch the kid suffer. Imagine how tormented the parents must feel; being responsible for their child's suffering yet not being able to do anything about it. But, from a different point of view, I find it quite fascinating that the consequences of a single letter, in a chain constituting more than 3 billion letters, could account for such grave and devastating effects. The documentary's a must-see!
Click for the clip, One Wrong Letter.
8 Comments:
An event, however small, can have a range of consequences of varying magnitudes. A simpler, more familiar analogy is making a single mistake in software. One byte would most certainly be enough to entirely messup a great chunk of the software's operations... :)
Nadhaa,
Nothing a prayer or two couldn't fix.
*Cough*
Simon, I appreciate the humor but don't you think prayer might have its uses for the grieving parents? The hope that their child is in a better place now (however improbable some of us may feel it to be) might actually work towards assuaging some of their unimaginable grief.
Cool case though Nadha. If only the movie X-Men had taken its cue from real-life mutations and not the comic book, they might have stood a chance at jerking tears all the way to an Oscar.
Jaa, true. Unlike software though, tracing back complex symptoms down to their root cause in the genome takes years of toiling :P
Wonder when we'll be able to pinpoint to the exact genetic defect of schizophrenia-spectrum disorders(quite a number of genes, linkage points and chromosomal abnormalities implicated at present).
Simon, *chuckles*
Hamza, I think for the parents the way out of their grief is to get a grip of thier emotions, rather than resorting to non-sensical fairytales. The way I see it, death was a blessing to the child cox it put an end to his suffering. It'll be well and good if the parents chose to see it that way, and view it as unfortunate that they had to chance on their own carrier conditons through a child. It's not their fault, and it's smthing that they could prevent in the future by prenatal screening. Thinking through with a clear head is way better than getting tangled up in emotions :P
What an evil and cruel gene.
Hail Gattaca! :P
Aw have a heart Nadha. Just 'cos we grew out of fairytales doesn't mean we have to diss 'em. You and Jaa have a great Valentine's day though.
Aww get real Fuzz. Hon, make sure u have a smashing time with ur funny valentine :P
For the rest of u lot: happy valentine's day! Spew spew, spewww out the lurrvve in ye!
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