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Biochem exam 2 > Metabolic Disease & the Maxillofacial Complex > Flashcards

Metabolic Disease & the Maxillofacial Complex Flashcards

1
Q

What is metabolic disease?

A

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

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2
Q

Thousands of enzymes participate in dozens of _________ metabolic pathways

A

interdependent

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3
Q

Are metabolic disease heritable?

A

typically yes

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4
Q

Do all metabolic diseases present the same?

A

no, they differ and in some cases appear only when the body is stressed

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5
Q

What is typically affected by metabolic disease?

A

bone/mineralized tissue and cartilage

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6
Q

what stages of life are affected by metabolic disease?

A

all!
infancy–> reflects an impact on embryo/fetus
adolescence–> hormonal influence
adult–> can be due to lifestyle

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7
Q

What are some factors that can influence metabolic disease?

A

genetics, nutrition, gender, age, environment, cultural, occupation, and other diseases/co-morbidities

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8
Q

how do genetics influence metabolic disease?

A

genes encode for the enzymes that regulate the pathways

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9
Q

how does nutrition influence metabolic disease?

A

vitamins form precursors to metabolic pathways

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10
Q

What are some of the things that can be screened for in newborn screening?

A

Phenylketonuria (PKU), hypothyroidism, galactosemia, sickle cell disease, and cystic fibrosis

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11
Q

What is a benefit for newborn screening?

A

allow for early treatment or dietary intervention to prevent/manage/delay symptoms

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12
Q

What is protein glycosylation?

A

sugar trees (glycans) are created, altered, and chemically attached to certain proteins or fats
-one of the major post-translational modification
-impacts protein folding, distribution, stability, and activity

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13
Q

How many genes are in the human genome?

A

20,000-25,000

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14
Q

How many tRNAs can be made with modifications?

A

over 100,000
*due to large variability in pattern of glycosylation

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15
Q

What are 5 types of protein glycosylation?

A

N-glycosylation**
O-glycosylation**
Glypiation
C-glycosylation
Phosphoglycosylation

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16
Q

What determines the pattern of glycosylation?

A

the cell type or tissue type

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17
Q

Why does glycosylation change based on the tissue type?

A

Different genes are active in different tissues

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18
Q

N-linked glycosylation

A

amide bond formed between N-acetylglucosamine and the Asparagine (N)
*typically see attached to two blue boxes

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19
Q

Where does N-linked glycosylation occur?

A

endoplasmic reticulum

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20
Q

O-linked glycosylation

A

carbs bind to protein backbone by N-acetylgalactosamine and the free hydroxy residue on serine, threonine, and tyrosine on the protein

21
Q

Where does O-linked glycosylation occur?

A

ER and golgi

22
Q

How many congenital disorders of glycosylation (CDG) are there?

A

around 130

23
Q

What are some of the dysmorphic features of CDGs?

A

prominent forehead, dysplastic ears, thin upper lip, long philtrum, and prominent jaw

24
Q

How many genes are responsible for O-linked glycosylation?

A

12 genes

25
Q

Do all mutations in N-glycosylation present the same phenotype?

A

No, disorders shown will differ based on where the mutation occurs and what sugars are added in what order
*group in clusters

26
Q

Do all mutations in O-glycosylation present the same phenotype?

A

yes- similar phenotypes

27
Q

What is a new tool that has been able to use to try and determine is there metabolic diseases?

A

AI has been used to scan and compare features of different diseases to see the possibility of having the disease
-not a diagnostic tool, but can give good insight

28
Q

What does the PMM2 gene encode for?

A

enzyme that generates mannose-1-phosphate from mannose-6-phosphate
-creates a sugar that can be added

29
Q

What are some possible clinical testing for CDG?

A

-simple blood test
-isoelectric focusing: separate molecules based upon electrical charge
-electrospray ionization-mass spectrometry
-enzyme activity assay
-molecular genetic testing

30
Q

simple blood test for CDGs

A

analyzes the glycosylation status of transferrin (normally heavily glycosylated)

31
Q

What are glycosaminoglycans? (GAGs)

A

highly sulfated, complex linear polysaccharides
have repeating disaccharide units

32
Q

What are some examples of GAGs?

A

heparan sulfate, chondroitin sulfate, dermatan sulfate, keratan sulfate, and hyaluronan (hyaluronic acid)

33
Q

how do GAGs differ?

A

have different repeating disaccharide combinations

34
Q

How much water can GAGs bind to?

A

1000x their weight

35
Q

Where are GAGs sulfonated?

A

in the golgi

36
Q

Which GAG is not sulfated?

A

hyaluronan

37
Q

what is the function of GAGs extracellularly?

A

form extracellular “gel” which gives the extracellular matrix:
-tensile strength and elasticity
-resist compressive force

38
Q

Roles of GAGs:

A

strutural properties are critical for modulating receptor/ligand binding, affecting cell function and tissue morphogenesis
-determine how cells respond to growth factors and extracellular stress

39
Q

What are mucopolysaccharidoses?

A

-group of 7 disorders
-deficiency in 1 of 11 enzymes involved with the breakdown of GAGs
-causes excessive lysosomal storage of GAGs

40
Q

Prevalence of MPS

A

1.9-4.5 of 100,000 live births
*very rare

41
Q

What do MPSs cause?

A

over accumulation of GAGs
-result in skeletal abnormalities, poor joint mobility, severe growth deficit, coarse facial features, and enlarge organs

42
Q

MPSs have _____ features, but _______ variability

A

common; inter-individual

43
Q

MPS I and MPS II (Hurlers syndrome)

A

gingival hyperplasia, delayed tooth eruption, malocclusion, mandicular dysplasia, radiolucent lesion in the jaw, and condylar defects

44
Q

MPS III (sanfilippo syndrome)

A

obliteration of pulp chambers and irregular root canals

45
Q

MPS IV (Morquio syndrome)

A

enamel defects with generalized loss of tooth structure

46
Q

MPS VI (Marateaux-Lamy syndrome)

A

multiple dentigerous cysts, macroglossia, fibrous gingival hyperplasia, generalized bone rarefractions, expanded marrow spaces, cortical wear, impairment of TMJ, impacted teeth, and morphological alterations in nasal cavity and maxillary sinuses

47
Q

Smith-Lemli-Optitz syndrome

A

disorder of cholesterol metabolism
-mutation in DHCR7 gene
-one of the final steps in cholesterol formation
-mental retardation, autism, epilepsy, agression, self-mutilation
-if found early, symptoms can be improved with cholesterol supplementation

48
Q

Functions of cholesterol:

A

cell membrane, Myelin, bile acids, steroid hormones, and SHH signaling

49
Q
A

Biochem exam 2 (9 decks)

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