Showing posts with label genetic. Show all posts
Showing posts with label genetic. Show all posts

The Third Component of Genetic Blueprint - Writing in Pen (DNA) vs. Pencil (Epigenetics)

The term epigenetics refers to changes in phenotype (appearance) or gene expression caused by mechanisms other than changes in the underlying DNA sequence, hence the name epi- (Greek: over; above) -genetics. There is no change in the underlying DNA sequence of the organism; the phenotype is expressed by activating some genes while inhibiting others. Epigenetics includes changes in gene function that occur without a change in the sequence of DNA. These changes occur as a result of the interaction of the environment with the genome. Epigenetic determinants activate or silence fetal genes through alterations in DNA, histone methylation and acetylation.


DNA associates with histone proteins to form chromatin. Image source: Wikipedia, GNU Free Documentation License.

From the National Geographic magazine:

"Mother Nature writes some things in pencil and some things in pen. Things written in pen you can't change. That's DNA. But things written in pencil you can. That's epigenetics. Now that we're actually able to look at the DNA and see where the pencil writings are, it's sort of a whole new world."

If you think of our DNA as a piano keyboard and our genes as keys - each key symbolizing a segment of DNA responsible for a particular note, or trait, and all the keys combining to make us who we are - then epigenetic processes determine when and how each key can be struck, changing the tune being played.

Recent studis focuses on a particular epigenetic process called DNA methylation, which is known to make the expression of genes weaker or stronger.

The good news is that some of these processes, unlike our DNA sequences, can be altered. Genes muted by methylation, for example, sometimes can be switched back on again relatively easily. And though it may not happen soon, the hope is that someday epigenetic mistakes will be as simple to repair as a piano that's out of tune.
"


Human chromosomes (grey) capped by telomeres (white). Image source: Wikipedia, public domain.

References:

Twins. National Geographic magazine, 01/2012.
Portrait of twins: series one and series two from National Geographic.
Twins Data Reshaping Nature Versus Nurture Debate. NPR.
Epigenetics, Wikipedia.
Feedback of DNA based risk assessments does not motivate behaviour change - BMJ, 2012 http://goo.gl/3HaRy

Genetic Marker For Heart Disease Risk - Cleveland Clinic video

From Cleveland Clinic YouTube channel: February is Heart Awareness Month. Meet a young woman who survived a heart attack the day before her college graduation and then discovered a genetic link to heart disease she never knew she carried.

The 21 genetic conditions that should be reported by patients if found
incidentally during whole-genome sequencing

The 21 genetic conditions that should be reported by patients if found incidentally during whole-genome sequencing


Illustration: DNA associates with histone proteins to form chromatin. Image source: Wikipedia.

There are no established guidelines on which genetic variants should be presented to physicians as incidental findings from whole-genome sequencing. A recent study showed that genetic specialists agreed that pathogenic mutations for 21 common genetic conditions should be disclosed by patients.

For adult patients

APC-associated polyposis
Fabry disease
Familial hypercholesterolemia
Galactosemia
Gaucher disease
Glycogen storage disease type IA
Hereditary breast and ovarian cancer
Homocystinuria
Li-Fraumeni syndrome
Lynch syndrome
Multiple endocrine neoplasia type 1
Multiple endocrine neoplasia type 2
MYH-associated polyposis
Phenylketonuria
Pompe disease
PTEN hamartoma tumor syndrome
Retinoblastoma
Romano-Ward (long QT syndrome)
Tyrosinemia type 1
Von Hippel-Lindau disease
Wilson disease

For pediatric patients (child)

PTEN hamartoma tumor syndrome
Retinoblastoma
Romano-Ward (long QT syndrome)
Von Hippel-Lindau disease

Collecting family history predicts cancer risk better than 23andMe genetic testing, according to a recent study from the Cleveland Clinic:



References

Exploring concordance and discordance for return of incidental findings from clinical sequencing. Green RC, Berg JS, Berry GT, Biesecker LG, Dimmock DP, Evans JP, Grody WW, Hegde MR, Kalia S, Korf BR, Krantz I, McGuire AL, Miller DT, Murray MF, Nussbaum RL, Plon SE, Rehm HL, Jacob HJ. Genet Med. 2012 Apr;14(4):405-10. doi: 10.1038/gim.2012.21. Epub 2012 Mar 15.

Genome sequencing to add new twist to doctor-patient talks. American Medical Association, 2012.

How to talk to patients about genetic testing  http://goo.gl/kkW4m