Question: Is there any disease mainly caused by underexpression or overexpression of some proteins?
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gravatar for vincent.bioscience
22 months ago by
China
vincent.bioscience0 wrote:

Is there any disease mainly caused by underexpression or overexpression of some proteins?

epigenetics overexpression • 1.0k views
ADD COMMENTlink modified 22 months ago by John12k • written 22 months ago by vincent.bioscience0
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gravatar for harold.smith.tarheel
22 months ago by
United States
harold.smith.tarheel4.4k wrote:

Any of the cytologically detectable deletions or duplications that are dominant disease markers (such as trisomy 21, mentioned by @Asaf) are presumed to decrease/increase gene expression levels.

Haplo-insufficient genes produce disease when one of the two copies is absent (e.g., Williams syndrome or Rubinstein-Taybi syndrome). Alpha-thalassemia (four copies) manifests as different diseases depending upon how many copies are deleted.

For overexpression examples, increased PKD1 causes polycystic kidney disease, and PLP1 duplication causes Pelizaeus–Merzbacher disease.

ADD COMMENTlink written 22 months ago by harold.smith.tarheel4.4k
1

To add to the list: SNCA duplication and triplication causes Parkinson Disease, APP duplication causes Alzheimer Disease. Heterozygous loss of GRN causes Frontotemporal Dementia.

ADD REPLYlink modified 22 months ago • written 22 months ago by WouterDeCoster40k
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gravatar for Asaf
22 months ago by
Asaf6.1k
Israel
Asaf6.1k wrote:

I guess that Down Syndrome is a case where a lot of genes are over-expressed due to an extra copy.

ADD COMMENTlink written 22 months ago by Asaf6.1k
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gravatar for WouterDeCoster
22 months ago by
Belgium
WouterDeCoster40k wrote:

Yes, such as diseased caused by gene deletions or other loss of function variants i.e. nonsense variants or frameshifts leading to a premature stop codon.

ADD COMMENTlink written 22 months ago by WouterDeCoster40k

Plus cases where pathogens modulate the host's gene/protein expression patterns, e.g. viruses that modulate cytokines expression levels.

ADD REPLYlink written 22 months ago by Jean-Karim Heriche20k
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gravatar for Kevin Blighe
22 months ago by
Kevin Blighe47k
Kevin Blighe47k wrote:

Breast cancer and CCND1.

  • Overexpression results in cell proliferation
  • Underexpresion compromises DNA damage repair pathways
ADD COMMENTlink written 22 months ago by Kevin Blighe47k
0
gravatar for John
22 months ago by
John12k
Germany
John12k wrote:

Type-2 Diabetes is a neato example of something that's a combination of both.

ADD COMMENTlink written 22 months ago by John12k
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