Human biochem lecture 8

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17 Terms

1

Tay-Sachs Disease

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

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2

GM2 ganglioside

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

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3

Hexosaminidase A

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

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4

Sphingolipids

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

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5

Glycerophospholipids

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

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6

Autosomal recessive

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

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7

Fatty Acids

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

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8

Saturated Fatty Acids

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

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9

Unsaturated Fatty Acids

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

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10

Triacylglycerol

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

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11

Macular Cherry-Red Spot

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

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12

Biological membranes

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

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13

Co-Transport

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

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14

Simple Diffusion

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

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15

Integral membrane proteins

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

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16

Permeases

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

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17

Lysosomes

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

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