Cameron Angelman syndrome baby :)

My adorable nephew cameron. He loves jumping.

Category:

Entertainment

Tags:

• Angelmans
• syndrome
• Cameron
• nephew
• my
• Samantha
• schilling

[ChristyG42]

Awwwww! His happiness is contagious! He makes me happy watching him ;) God bless you!

[yndigot]

What an uber cutie!

[smaugimpenetrable]

@cutechubster My pleasure! :)

[cutechubster]

@smaugimpenetrable Thanks for the thorough explanation.

[smaugimpenetrable]

contd.

And because it mainly affects specific parts of the brain, we see the typical neurologic symptoms...

(In fact, there is another disease assocaited with the same chromosome i.e. chromosome 15, which involves the very same mechanism (genomic imprinting), except that, its the copy of the DNA on the chromosome coming from the mother that is normally inactivated... This syndrome is called Prader-Willi Syndrome) Phew! That was long! I hope you appreciate it! :)

[smaugimpenetrable]

contd. Now, there is a possibility, that the chromosome coming from the mother might undergo some undesirable change... it might get mutated... But, as discussed earlier, the chromosome in the pair that came from the father has already been inactivated! So, effectively, now you have no functional chromosome 15! As a result, the proteins that chromosome 15 was expected to make, are not made at all...

This is exactly what happens in Angelman Syndrome...

[smaugimpenetrable]

contd.

Therefore, the copy of the chromosome which is unwanted (that acquired from the father, in this case) is inactivated (while that obtained from the mother is retained, which'd be used to make the desired protein)...

Thus, for the 15th pair of chromosomes, only the one obtained from the mother is active, while that obtained from the father is inactivated... This is what happens normally in all of us... Its called genomic imprinting...

[smaugimpenetrable]

contd.

However, sometimes, one of the two, or even both, may undergo some changes- called mutations- which'd cause them to produce abnormal protein/s, or no protein at all... Such a condition would be a cause of a genetic disease... Now... in some rare circumstances, as is the case with chromosome 15, the body normally does not need each of the chromosomes in the pair to make protein/s... It just needs the DNA in one of the two identical chromosomes to make the protein...

[smaugimpenetrable]

contd.

Human DNA is very long. To get a copy to fit in each of our cells, our DNA is condensed (sort of 'zipping' a folder to make it smaller) in the form of structures called chromosomes. We have a total of 46 chromosomes in our body- 23 pairs to be precise.

Now, in a normal human being, chromosomes in a pair are genetically identical, except for small differences- i.e. a homologous pair. This means, that each of the two chromosomes in a pair will make the same protein/s that its partner does.

[smaugimpenetrable]

@michelleaxel I can... Angelman Syndrome is a genetic disorder affecting normal brain-related development, leading to functional impairment including inadequate speech, frequent loss of balance, flapping hand movements, and frequent laughter (which is unique to this disease).

DNA- which is the genetic material in our body has two important functions- one, replicate itself, so as to form copies, and make more cells... two, to form all the proteins which'd be required for our body functions.