Metabolic Disease & Maxillofacial Complex

Question 1

Glycosylation

Answer 1

The attachment of sugar moieties to proteins and lipids, a process carried out by a series of enzymes.

Question 2

Mucopolysachharidoses

Answer 2

A group of disorders caused by disruption in synthesis of glycosaminoglycans (GAGs).

Question 3

Facial gestalt

Answer 3

the overall facial appearance of an individual.

Question 4

Face2Gene / FaceMatcher:

Answer 4

software enhancing the diagnosis of disorders based principally on facial appearance.

Question 5

Metabolic Disease

Answer 5

any disruption of the ability of the cell to perform critical biochemical reactions involved in the process of converting food to energy

Question 6

Metabolic disease is often…

Answer 6

heritable

Question 7

Impact of metabolic disease on maxillofacial complex can be variable and affect ____ stages of life.

Answer 7

ALL

Question 8

Influencing factors on metabolic disease

Answer 8

genetics, nutrition, gender, age, environment, culture, occupation, co-morbidities

Question 9

Taurodontism

Answer 9

Underdeveloped roots which means that teeth can be easily lost

Question 10

N-glycosylation

Answer 10

• Amide (NH2) bond formed between N-acetyl-glucosamine and the amino acid, Asparagine in a protein.
• Occurs in the ER

Question 11

O-glycostylation

Answer 11

• Carbohydrates bound to a protein backbone via N-acetyl-galactosamine and free hydroxyl residues on one of three amino acids (Serine, Tyrosine, Threonine) in a protein.
• Occurs mostly in ER and Golgi
• Generally more simple form

Question 12

The pattern of glycosylation is often…

Answer 12

cell type-specific

Question 13

Mutations in any of the 12 genes responsible for O-linked glycosylation all lead to a ____ phenotype

Answer 13

similar

Question 14

Mutations in each gene required for N-linked glycosylation DO NOT all give the same phenotype but rather results in distinct…

Answer 14

clustering of phenotypes

Question 15

Transferrin

Answer 15

Important molecule for blood tests that test for congenital disorders of glycosylation

Question 16

Glycosaminoglycans (GAGs)

Answer 16

• Family of highly sulfated, complex linear polysaccharides which are critical for modulating receptor/ligand binding, affecting cell function, & tissue morphogenesis
• Always found extracellularly
• Always added onto proteins (aside from Hyaluronan)

Question 17

The progressive accumulation of GAGs results in…

Answer 17

skeletal deformities, poor joint mobility, sever growth deficit, coarse facial features, enlarged organs

Question 18

Congenital Disorders of Glycosylation (CDG)

Answer 18

• 130 subtypes
• Characterized by variability and often mild dysmorphic features