EXAM 2 STARTS: Metabolic Disease and the Maxofacial Complex- Guest lecture

Question 1

What is metabolic disease

Answer 1

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

Question 2

what is affected by metabolic disease

Answer 2

processing, transport, or absorption of proteins, carbohydrates, or lipids

Question 3

what are the influencing factors of metabolic disease

Answer 3

-genetics
-nutrition
-gender
-age
-environment
-cultural
-occupation

Question 4

what metabolic diseases are screened for prenatally

Answer 4

phenylketonuria (PKU), hypothyroidism, galactosemia, sickle cell disease, cystic fibrosis

Question 5

what is protein gylcosylation

Answer 5

process by which sugar “trees” (glycans) are creatde, altered and chemically attached to certain proteins or fats

Question 6

when does glycosylation occur

Answer 6

post translationally

Question 7

what are congenital disorders of glycosylation characterized by

Answer 7

-prminent forehead
-dyslplastic ears
-thin upper lip
-prominent jaw
-prominent nose and anteverted nostrils
-high arched palate

Question 8

what are the types of glycosylation

Answer 8

-simple monosaccharide modifications of nuclear transcription factors
- complex branched polysaccharides (GAGs) on cell surface receptors

Question 9

how does glycosylation affect proteins

Answer 9

impacts protein folding, distribution, stability and activity

Question 10

what is N linked glycosylation

Answer 10

amide bone formed between N-acetylglucosamine and the asparagine in a protein

Question 11

where does N linked glycosylation occur

Answer 11

ER

Question 12

what is O linked glycosylation

Answer 12

carbohydrates bound to a protein backbone through N-acetylgalactosamine and free hydroxyl residues on the protein

Question 13

where does O linked glycosylation occur

Answer 13

ER and golgi

Question 14

Describe the phenotype impact of O linked glycosylation

Answer 14

all lead to a similar phenotype

Question 15

describe the impact of N linked glycosylation on phenotype

Answer 15

mutations do not give the same phenotype

Question 16

how is CDG tested for

Answer 16

• simple blood test to analyze the glycosylation status of transferrin
• electrospray. ionization-mass spectrometry to detect abnormal transferrin
  -enzyme activity assay for some subtypes
• molecular genetic testing

Question 17

what are GAGs

Answer 17

a family of highly sulfated, complex linear polysaccharides

Question 18

what molecules do GAGs play a role in

Answer 18

-heparin/heparan sulfate
-chondroitin sulfate/dermatan sulfate
- keratan sulfate
-hyaluronan

Question 19

what do GAGs do

Answer 19

-tensile strength and elasticity
-resists compressive force

Question 20

what are MPS diseases caused by

Answer 20

lysosomal storage of GAGs that result in skeletal deformities, poor joint mobility, severe growth deficit, coarse facial features, and enlarged organs

Question 21

what are MPS 1 (Hurler Syndrome) and MPS 2 (Hunter Syndrome) characterized by

Answer 21

gingival hyperplasia, delayed tooth eruption, malocclusion, mandibular dysplasia, radiolucent lesions in the jaws, and condylar defects

Question 22

what is MPS 3 (Sanfilippo) syndrome characterized by

Answer 22

obliteration of pulp chambers and irregular root canals

Question 23

what is MPS 4 (Morquio syndrome) characterized by

Answer 23

enamel defects with generalized loss of tooth structure

Question 24

what is MPS 6 (Marateaux-Lamy syndrome) characterized by

Answer 24

multiple dentigerous systs, macroglossia, fibrous gingival hyperplasia, generalize bone rarefactions, expanded marrow spaces, cortical wear, osteosclerosis, root resorption, demineralization of the symphysis region, impairment of TMJ, impacted teeth and morphologic alterations in nasal cavity and maxillary sinuses

Question 25

what are lysosomal storage disorders

Answer 25

MPS 1 and MPS 2 and ML (mucolipidosis)

Question 26

what are examples of metabolic disorders

Answer 26

MPS1 and MPS2 and ML and Smith Lemli Opitz syndrome

Question 27

what is smith-Lemli_opitz syndrome (SLOS)

Answer 27

-disorder of cholesterol metabolism caused by a mutation in the DHCR7 gene
-high cholesterol precursors low cholesterol

Question 28

what does SLOS affect

Answer 28

multiple anomalies (cardiac, urogenital, digit, renal, pulmonary), dysmorphic face, growth deficiency, mental retardation including autism, epilepsy, aggression and self mutilation