Genetics and Lysosomal Storage Disorders Quiz

Proteins that are essential for basic cellular processes and are found in almost every cell type.

Proteins that have specialized functions and are expressed in only certain cell types, contributing to their unique characteristics.

Mutations in housekeeping proteins can disrupt fundamental cellular processes and lead to widespread dysfunction.

Mutations in specialty proteins can cause disruptions in specific tissues or organs, leading to unique disorders.

The study of the tissue expression pattern of a protein can help understand the cause and symptoms of a genetic disease.

Mutations in proteins that are essential for normal function can lead to diseases that affect the tissues where those proteins are active.

A large number of protein-coding genes, typically 10,000 to 15,000, are expressed in most human cell types.

Mutations in proteins can disrupt their function, impacting the cell and its function.

Individuals with a pseudodeficiency allele on one chromosome and a common Tay-Sachs mutation on the other chromosome. They have a lower level of hex A activity but still avoid GM2 ganglioside buildup.

A genetic disorder caused by the lack of proper post-translational modification of lysosomal enzymes, resulting in their incorrect delivery and accumulation in body fluids.

The sugar component of glycoproteins containing mannose residues, some of which are phosphorylated.

A post-translational modification of lysosomal enzymes that is crucial for targeting them to lysosomes.

The process of adding sugars (glycosylation) to proteins after translation, which can affect their function and location.

A type of cellular trafficking where proteins are transported to their destination based on modifications made after they've been synthesized.

Specialized cellular compartments responsible for breaking down waste products and cellular debris.

Enzymes that work in lysosomes to break down various molecules, such as proteins, carbohydrates, and lipids.

A rare genetic disorder characterized by low levels of the enzyme porphobilinogen deaminase, leading to the accumulation of δ-aminolevulinic acid (ALA) and porphobilinogen (PBG) in the body.

A type of AIP where individuals do not experience any symptoms.

A type of AIP where individuals experience neurological symptoms often triggered by factors like drugs, chemicals, or fasting.

The process by which a disease develops.

A molecule important in the biosynthesis of heme, a component of hemoglobin.

A molecule involved in the biosynthesis of heme.

A protein responsible for converting porphobilinogen (PBG) into hydroxymethylbilane, a step in heme synthesis.

A genetic disorder resulting from high levels of low-density lipoprotein (LDL) cholesterol in the blood, primarily due to mutations in the LDL receptor gene.

A genetic disorder caused by a mutation in the alpha-1 antitrypsin (α1AT) gene, leading to a deficiency of α1AT, a protein that protects the lungs from damage.

The protein affected in α1AT deficiency, responsible for inhibiting enzymes that break down lung tissue.

The dysfunctional protein in α1AT deficiency, forms long chains that can disrupt cell function and lead to lung or liver damage.

The likelihood of an individual developing α1AT deficiency is 1 in 6700, with approximately 4% being carriers.

Variations in the α1AT gene that can increase the risk of developing lung or liver disease.

The relationship between smoking and survival rates in individuals with α1AT deficiency. Smoking significantly worsens outcomes.

The process by which mutant α1AT proteins aggregate to form long chains, leading to cellular dysfunction.

The change in shape or structure of a protein, which can lead to its dysfunction, as seen in α1AT deficiency.

The LDL receptor is a protein on the surface of cells that binds to LDL cholesterol and brings it inside the cell.

The buildup of cholesterol within the walls of arteries, leading to hardening and narrowing of the blood vessels.

Fatty deposits that build up under the skin and in tendons, a common sign of familial hypercholesterolemia.

A gene dosage effect occurs when the severity of a disease depends on the number of copies of the mutated gene.

A genetic condition where individuals inherit one copy of the mutated gene from each parent. They usually develop symptoms later in life and less severely than homozygotes.

A genetic condition where individuals inherit two copies of the mutated gene, one from each parent. They typically have severe symptoms early in life.

Atherosclerosis, xanthomas, and early heart disease.

The process of adding a fatty acid to cholesterol, which is essential for storing cholesterol within cells.

An enzyme that plays a crucial role in intracellular cholesterol storage by catalyzing the conversion of cholesterol to cholesteryl esters.

A type of cholesterol that's stored within cells, formed when cholesterol is esterified with a fatty acid.

A receptor protein responsible for taking up low-density lipoprotein (LDL) particles from the bloodstream into cells.

The process of reducing the synthesis of LDL receptors inside cells in response to increased levels of cholesterol.

A genetic disorder caused by mutations in the LDLR gene, hindering the uptake of LDL cholesterol from the blood, leading to high cholesterol levels.

The process of removing cholesterol from cells and returning it to the bloodstream for transport.

The primary protein responsible for transporting cholesterol from cells to the liver for excretion.