Important Research Finding in TSC/LAM: Introduction

For those without a science background I thought I would preface my past posting & the followup posts that will be forthcoming with some helpful definitions.

Genetics can get complicated to follow at points.   It took me about 3 lectures at LAM & TSC conferences before I grasped the basic premise behind how TSC works. There are things even after getting more education & sitting on both clinical & basic research panels that I still don’t grasp entirely, but that’s OK.  I still know enough to follow along basically, & hopefully these upcoming posts will help someone do the same.

Therefore, I thought it might be helpful to link out to some terms out front to make the research paper easier to digest.

Today I’m focusing on breaking down the terminology presented in the most recent finding  I blogged about recently.

Over the next few days,  I’ll dig into the questions I proposed to Dr. D’Armiento & Dr. Chada about this research finding that they were gracious enough to share their insights on.  I hope you find it as enlightening as I did.

[Granted, I also am trying to keep this as simple as possible but all of this research is complex to follow at points.  But it certainly was valuable talking with both researchers because it helped me connect many dots in my prior understanding & gave me some new knowledge & insight as well. ]


(I chose these definitions because it helped me dissect the research paper a little easier & faster.)


undifferentiated cell: an immature cell; a cell without specialized structure or function  (source: Biology online)

mesenchymal cell: an embryonic cell responsible for developing from bones and cartilage to the lymphatic and circulatory systems  (Source:

allele: one member of a pair of genes occupying a specific spot on a chromosome that controls the same trait (source: Biology online)

heterozygous: where paired alleles are different (source:  Biology online)

(NOTE: HMGA2  is also known as High Mobility Group At-Hook 2)

transcription factor: proteins that convert DNA into RNA. They allow for expression of genes (Source:

DNA: responsible for an organism’s genetic blueprint.  (Source:

RNA:  carries same information as DNA but not used for storage in a cell. Often referred to as a reference or template.  May play a role in switching cells on & off.  (Source:

tumorgenesis:  process that leads to the formation of tumors in the body.

Now that the basic definitions are out of the way, let me preface by saying this finding has been in the works & has been actively researched in our community since at least 2007.

There was a prior research paper by this same research group that was published previously that this  current finding was building on.

Link to prior paper: Cancer Research

It is important to note that this finding does NOT negate any of our past research into our diseases,  it just means that we must be open & consider that there are more pathways & more mechanisms involved that what we originally thought.  Especially, when we stumbled upon the link between the mTOR pathway (another complex scientific process) & that link to TSC & LAM.

We were not & are not barking up the wrong tree with any of our research.

But this finding could explain why our current treatment only works for a percentage of the population.

We need to see the bigger picture.

Which is why findings like these are important to consider in equal weight & parity to our ongoing research.

We must leave no stone unturned when it comes to understanding both the basic science & clinical endgame of the research into our diseases.

[In advance, I’d like to thank Susie Picart, Mary Harbaugh, Nicole Wipp, & others for their insights & food for thought that helped me formulate the questions. Also those from the TS Alliance & research community that I ran a few thoughts & observations by as I was digesting this research for myself.  I can only hope it’s a fair representation to the entire community, for those of us with TSC, TSC & LAM as well as sporadic LAM. ]


One thought on “Important Research Finding in TSC/LAM: Introduction

  1. Pingback: Important Finding In LAM & TSC: Part I | AS I LIVE & BREATHE

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