Day 6. Genetics. Single-gene Disorders.

Moved to genetics this morning. Metabolsism still needs revising and memorizing, but for the first reading, it's ok, I guess. I read Goljan's high yield notes yesterday and they didn't seem rocket science anymore, started to make sense. I mean, I actually knew something. Questions though seem tricky. The whole picture is still a bit messy. Needs lot of work.

• point mutations
• missense mutations
• nonsense mutations
• deletion/insertion mutations
• framshift mutations

AD - autosome dominant (mostly structural protein defect) (gained/lost). E.g. Achondroplasia.

AR - autosomal recessive (usually ezyme defects) E.g. Cystic fibrosis.

X-linked inheritance. (From mother to son, no father to son) E.g. Hemophilia A.

X-linked dominant inheritance (more women affected).

Mitochondrial inheritance - (all children of a sick woman are affected; men don't transmit) Leber Herditary Optic Neuropathy

Day 5. Lipid Metabolism

It goes slower now, as I've been trying to fit all the different pathways into one whole metabolism picture. But it gets messy as there are huge number of enzymes to remember and how they are controlled.
But as my online study partner said: don't get frustrated and be patient. And I'm trying to do this.
"What is important is to keep learning, to enjoy challenge, and to tolerate ambiguity. In the end there are no certain answers". I like this quota by Martina Horner.

Day 4. Glycogenesis. Glycogenolysis. Glyconeogenesis. PPP.

Day 3. TCA cycle and Oxidative Phosphorylation

• in mitochondria
• AcetylCoA (acetyl group) is completely oxidized to CO2.
• energy saved as NAHD, FADH2 and GTP
• no hormonal control as energy need doesn't depend on fed-state
• control mechanism - energy status of the cell
• enzymes in the matrix of the mitochondria, except succinate dehydrogenase (inner membrane)
• electron transport chain creates H+ gradient between two sides of the enner membrane of the mitichondra
• the H+ gradient's energy is used for making ATP

Day 2. Glycolysis

• rate-limiting enzyme - phosphofruktokinase-1

Day 1. Overview of Metabolism

• in well-fed state the main source of energy for liver - excess of amino acids.

Updates

I have been studying biochemistry for a while now. Recently found a study partner and we made a schedule which we try to follow.