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Applied Biochemistry > Metabolic Disease > Flashcards

Metabolic Disease Flashcards

1
Q

what is a metabolic disease?

A

any disruption of the ability of the cell to perform critical biochemical reactions involved in the processes of converting food to energy on a cellular level (ex. metabolism)

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2
Q

metabolic disease can involve

A

the processing, transport or absorption of proteins (amino acids), carbohydrates (sugars and stretches), or lipids (fatty acids)

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3
Q

thousands of enzymes participate is dozens of

A

interdependent metabolic pahtways

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4
Q

is metabolic disease heritable?

A

typically yes

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5
Q

level of robustness with “feedback” mechanisms to help regulate

A

pathway activities

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6
Q

variable in presentation, in many cases only appearing when the body is

A

stressed

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7
Q

many affect (3)

A

bone, mineralized tissue, cartilage

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8
Q

impact on maxillofacial complex can be variable and affect all stages of life

A

infant, reflecting an impact on the embryo/fetus
adolescence
adult

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9
Q

influencing factors include (8)

A 
genetics 
nutrition
gender 
age
environment 
cultural
occupation
other diseases/co-morbidities
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10
Q

in severe cases, — — is done

A

prenatal screening

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11
Q

newborn metabolic screening (non standardized) in all states allows for

A

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

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12
Q

examples of newborn metabolic screening (non standardized) in all states (5)

A

PKU, hypothyroidism, galactosemia, sickle cell disease, CF

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13
Q

glycoslyation

A

process by which sugar trees (glycans) are created, altered and chemically attached to certain proteins or fats (lipids)

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14
Q

one of the major post translational modifications

A

glycoslylation

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15
Q

CDG

A

congenital disorders of glycolsylation

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16
Q

~— subtypes of CDG

A

130

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17
Q

CDG is characterized by variably dysmorphic features such as

A

Prominent forehead, dysplastic ears and large ear lobules, thin upper lip, long philtrum, prominent jaw (develops with age as mandible can start as retrognathic), narrow/short palpebral fissures, prominent nose and anteverted nares, high-arched palate, long and slender fingers and toes, peau d’orange (skin of an orange), strabismus, inverted nipples, abnormal fat distribution, cardiac defects, liver and bile duct abnormalities, urogenital malformations

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18
Q

simple monosaccharide modifications of

A

nuclear transcription factors

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19
Q

complex branched polysaccharides (GAGs) on

A

cell surface receptors

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20
Q

what does protein glycosylation impact?

A

protein folding, distribution, stability and activity

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21
Q

the pattern of glycoslation is often

A

cell type specific

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22
Q

due to differential expression of the genes encoding the

A

respective enzymes

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23
Q

large variation in pattern because of the difference in

A

sugar moieties added

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24
Q

N linked glycosylation

A

efers to amide bond (beta-conformation) formed between GlcNAc (acetylglucosamine) and the amino acid,Asparagine (Asn:N), in a protein.Occurs within the endoplasmic reticulum (ER).▸O-linked

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25
Q

O linked glycosylation

A

carbohydrates bound to a protein backbone through hydroxyl residues (eg. on Ser, Thr, Tyr). Occurs mostly in ER & Golgi.

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26
Q

mutations in any of the 12 genes responsible for O linked glycoslation all lead to a similar

A

phenotype

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27
Q

mutations in each gene required for N linked glycolylation do not all give the same phenotype rather, they

A

group in clusters

28
Q

distinct clustering of phenotypes is dependent on

A

defective enzyme in the process of assembly

29
Q

clinical presentation is partly dictated by the specific function of the

A

polysaccharide configuration

30
Q

Face2Gene technology

A

assessment of craniofacial dysmorphic features (pattern recognition)

31
Q

what do you input into Face2Gene?

A

facial frontal photos from 50 unaffected controls and 18 from patients with confirmed PMM2-CDG (most common form)

32
Q

If a CDG suspected (based on symptoms, patient history and clinical evaluation), testing options include (4)

A

Simple blood test to analyze the glycosylation status of transferrin (a circulating glycoprotein essential for iron transport)
Electrospray ionization-mass spectrometry can also be used to detect abnormal transferrin - more specific (subtype detection)
Enzyme activity assay for some subtypes
Molecular genetic testing is needed for confirmation.

33
Q

isoelectric focusing (IEF)

A

separate molecules such as proteins or enzymes based upon their electrical charge

34
Q

glycosaminoclgycans (GAGs)

A

A family of highly sulfated, complex linear polysaccharides(typically of repeating polysaccharide units) having a variety of biological roles

35
Q

what are the roles of GAGs (4)

A

Heparin/heparan sulfate
Chondroitin sulfate/dermatan sulfate
Keratan sulfate
Hyaluronan

36
Q

GAGs can bind as much as —-x their weight in water

A

1000x

37
Q

up to – sugars linked to protein (proteoglycan) in the ER and Golgi

A

80

38
Q

subsequently — in the Golgi, further modulating properties of the protein

A

sulfated

39
Q

what GAG is the exception?

A

Hyaluronan

40
Q

hyaluronan

A

non-sulfated, free (not protein-linked) poly-saccharide synthesized at the plasma membrane

41
Q

purpose of extracellular gel (2)

A

tensile strength and elasticity

resists compressive force

42
Q

the diverse structural properties of GAGs are critical for (3)

A

modulating receptor / ligand binding, affecting cell function & tissue morphogenesis

43
Q

MPS

A

mucopolysaccharidoses

44
Q

how many MPS disorders are there

A

7

45
Q

MPS is the deficiency in

A

1 of the 11 enzymes involved in the breakdown of GAGs

46
Q

overall prevalence of MPS

A

1.9-4.5 per 100,000 live births

47
Q

MPS is characterized by

A

lysosomal storage of GAGs

48
Q

The progressive accumulation of GAGs results in (5)

A 
skeletal deformities
poor joint mobility 
severe growth deficit
coarse facial features
enlarged organs
49
Q

MPS 1 (hurler syndrome) and MPS 2 (hunter syndrome)

A

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

50
Q

MPS 3 (sanfillippo syndrome)

A

Obliteration of pulp chambers and irregular root canals

51
Q

MPS 4 (mosquito syndrome)

A

Enamel defects (1 ̊ & 2 ̊ dentition), with generalized loss of tooth structure

52
Q

MPS 6 (marateaux-lamy syndrome

A

Multiple dentigerous cysts, macroglossia, fibrous gingival hyperplasia, generalized 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.

53
Q

MPS1 and 2 are

A

lysosomal storage disorders

54
Q

MPS 1, MPS 2, and smith-lemi opitz syndrome are

A

metabolic disorders

55
Q

smith-lemi opitz syndrome

A

disorder of cholesterol metabolism

56
Q

smith-lemi opitz syndrome is caused by a mutation in the

A

DHCR7 gene

57
Q

DHCR7 gene encodes for

A

dehydrocholesterol delta reductase

58
Q

smith-lemi opitz syndrome and cholesterol levels

A

high cholesterol precursors, low cholesterol

59
Q

functions of cholesterol (5)

A 
cell membranes 
myelin (axonal)
bile acids
steroid hormones
SHH signaling
60
Q

symptoms associated with smith-lemi opitz syndrome (7)

A

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

61
Q

dental symptoms associated with smith-lemi opitz syndrome

A

crowded teeth, widely spaced incisors, oligodontia, polydontia, premature tooth eruption, enamel hypoplasia, bifid uvula, broad alveolar ridges, bifid tongue, and Pierre-Robin sequence (glossoptosis, retrognathia and cleft palate) (Rojare et al 2019)

62
Q

early detection may improve

A

patient outcomes, as cholesterol supplementation can improve symptoms

63
Q

Metabolic diseases can have significant impact on the

A

maxillofacial complex at all ages (embryonic and postnatal)

64
Q

Important to recognize early as treatments and/or dietary modulations may have a

A

profound effect on the individual in the long term

65
Q

Dentists can be at the forefront of recognizing such diseases because of

A

dental involvement

Applied Biochemistry (52 decks)

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