Human biochem lecture 8

Tay-Sachs Disease

A genetic lipid storage disorder caused by a mutation in the HEXA gene, leading to neurodegeneration.

GM2 ganglioside

A type of lipid that, when not degraded due to HEXA gene mutation, causes symptoms in Tay-Sachs disease.

Hexosaminidase A

The enzyme required for the degradation of GM2 gangliosides, defective in Tay-Sachs disease.

Sphingolipids

Lipids constructed from sphingosine, often found in cell membranes and involved in Tay-Sachs disease.

Glycerophospholipids

The main structural component of biological membranes, composed of two fatty acids, glycerol, and a phosphate group.

Autosomal recessive

A mode of inheritance whereby two copies of an abnormal gene must be present for the disorder to develop.

Fatty Acids

The simplest lipids, consisting of a hydrocarbon tail and a carboxylate head.

Saturated Fatty Acids

Fatty acids with no double bonds in their hydrocarbon chain, fully saturated with hydrogen.

Unsaturated Fatty Acids

Fatty acids that contain one or more double bonds in their hydrocarbon chain.

Triacylglycerol

Also known as triglycerides, these are fats composed of three fatty acids attached to a glycerol.

Macular Cherry-Red Spot

A characteristic eye symptom of Tay-Sachs disease caused by lipid accumulation in retinal cells.

Biological membranes

Structures composed primarily of lipids and proteins that include various molecular components.

Co-Transport

A method of transport across a membrane using ion gradients set up by ATP pumps to facilitate the movement of other molecules.

Simple Diffusion

The process of passive transport allowing molecules to move from an area of higher concentration to one of lower concentration.

Integral membrane proteins

Proteins that span the lipid bilayer of membranes and play roles in various cellular functions.

Permeases

True transporters that can either facilitate or actively transport molecules across the membrane.

Lysosomes

Cellular organelles that contain enzymes for breaking down waste materials and cellular debris.