Cells are fast and crowded places (2011)
I had no idea.<p>I am really glad to see this piece. I&#x27;ve spent more than 19 years getting myself healthier while the world spit in my face and called me <i>crazy</i>. I did so by focusing on trying to understand my genetic disorder at the cellular level.<p>Most genetic disorder involve a miscoded protein. Your DNA serves as the blue prints for a complex factory called a &quot;cell&quot; and when there is a bug in the code of your DNA, the 3D printer mechanisms translating those instructions into physical reality create something broken.<p>That something broken is typically a bit of protein that normally gets folded up and used as a tool within the cell. When it is miscoded, it can&#x27;t do it&#x27;s job. It&#x27;s sometimes kind of like a cog missing a tooth.<p>As the cell gets more chemically deranged from the tools misfiring, you see more misfolded proteins. If either salinity or pH balance are off, those proteins are more likely to misfold.<p>I think this accounts for what gets called &quot;The normal progression of CF.&quot; It&#x27;s a positive feedback loop -- aka a vicious cycle.<p>More broken proteins leads to worse chemical derangement and worse chemical derangement leads to more broken proteins and we are off and running on a highway to hell.<p>In cystic fibrosis, the protein that gets miscoded is known as the CFTR -- the cystic fibrosis transmembrane conductance regulator. It serves as a channel in the cell membrane.<p>You can think of it like a traffic light managing traffic into and out of the cell of certain proteins or an air lock and only certain proteins with the right ID card get to use it.<p>It causes the body to misprocess salt (NACL -- sodium chloride) and also sodium bicarbonate -- aka baking soda. I think the misprocessing of sodium bicarbonate is a large factor in why people with CF are so prone to being very acid.<p>I initially thought this my big discovery. It turns out everyone who knows anything about CF knows it causes excess acidity, including patients and doctors. They just don&#x27;t bother to do a damn thing about it and act like it isn&#x27;t clinically significant information.<p>&quot;You are people are dying. We know you are too acid. Meh. Can&#x27;t be related. Moving on.&quot;<p>Even though if you get ketoacidosis they promptly hospitalize you because you can be dead within three days.<p>Ketoacidosis is typically rooted in diabetes and people with CF are at high risk of developing a special form of diabetes known as Cystic Fibrosis Related Diabetes (CFRD). But lets not confuse any poor doctors and scientists with the facts. The slow boiling of the tissues of people with CF in acid couldn&#x27;t possibly be anything like this extremely deadly condition for which they promptly hospitalize you. No. Let&#x27;s just ignore the acidification of people dying of CF. Can&#x27;t possibly be clinically significant.<p>The salt wasting we do has significant implications because as the salt gets sweated out at high rates, it drags other electrolytes with it. Reading up on Altitude Sickness was hugely helpful to my understanding of what was going on with my body and finally gave me a direct connection between the respiratory problems and the gut issues that both occur in CF.<p>When you are altitude and can&#x27;t get enough oxygen, you begin peeing more. You do this because the body cannot breath out all of the wastes accumulating in your blood and your body starts shunting those wastes through the kidneys as a backup system.<p>So your blood chemistry directly connects what is going on in your lungs to what is going on in your gut. These are not &quot;separate and unrelated systems that never interact.&quot; It is not &quot;mere coincidence&quot; that people with CF have both gut and respiratory issues.<p>Of course, a more fundamental issue is that CF significantly impacts all epithelial tissues and all mucus membranes and your lungs and gut both fall in both categories. (Your skin is also epithelial tissue, but not a mucus membrane.)<p>Anyway, glad to see cell biology getting some attention. This helps explain a lot about what I have accomplished and I am sort of glad I didn&#x27;t get the memo earlier. Thinking of the cell in relatively simple terms was helpful to me, if only to make me feel less intimidated by the process of trying to get well while the entire world treated me abusively for not liking what was happening to my body and not wanting to quietly and meekly go along with their plans to gruesomely murder me so doctors and scientists could feel like they are smart and know things and former homemakers are clearly all &quot;dumb blondes&quot; or some shit.<p>Yes, I have baggage. No, I&#x27;m not apologizing. The world could have been less awful to me. It chose not to be.