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Pathology > gentic disorders 2 > Flashcards

gentic disorders 2 Flashcards

1
Q

When there are food/molecule outside of the cell

A

heterophagy

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2
Q

Dead organelle inside the organ has to be removed by_______

A

autophagy

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3
Q

catabolism of the substrate of the missing enzyme remains incomplete, leading to the accumulation of the partially degraded insoluble metabolite within the lysosomes.

A

Primary accumulation

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4
Q

Impaired autophagy gives rise to ________

A

secondary accumulation

-generation of free radicals and apoptosis

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5
Q

Type 2- pompe disease

A

Glycogenesis

-glycogen

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6
Q

GM1 ganglioside betagalactosidase

A

Sphingolipidoses

-GM1

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7
Q

Sphingomyelinase

A

Sulfate doses ex/ niemann pick disease

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8
Q

Alpha-liduronidase

A

Mucopolysacharidoses

-dermatan sulfate, heparin sulfate

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9
Q

Enzymes needed for the formation of mannose-6-phosphate recognition marker

A

Mucopolidoses

-mucopolysaccharides

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10
Q

Alpha fucosidase

A

Fucosidosis

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11
Q

is based on the premise that if the substrate to be degraded by the lysosomal enzymes can be reduced, the residual enzyme activity may be sufficient to catabolize it and prevent accumulation

A

subtrate reduction therapy

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12
Q

competitive inhibitor of the enzyme can bind to the mutant enzyme and act as the folding template that assists proper folding of the enzyme and thus prevents its degradation

A

molecular chaperone therapy

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13
Q

Results from mutations in the α-subunit locus on
chromosome 15 that cause a severe deficiency of
Hexosaminidase A

A

Tay-sachs disease

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14
Q

molecule composed of glycosphingolipid with one or more sialic acids linked on the sugar chain

A

gangliosides

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15
Q

involved in cell-cell recognition and adhesion and signal transduction

A

gangliosides

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16
Q

gangliosides are degraded to _________, catalyzed by a set of highly specific lysosomal enzyme (hexoseaminidase A)

A

ceramides

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17
Q

lysosomal accumulation of sphingomyelin due to inherited deficiency of sphingomyelinase

A

Niemann-pick disease types A and B

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18
Q 
- severe infantile form with extensive 
neurologic involvement, marked visceral 
accumulations of sphingomyelin, and 
progressive wasting and early death within the 
first 3 years of life.
A

Type A

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19
Q

organomegaly but no CNS involvement. Patients usually survive into
adulthood.

A

Type B

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20
Q 
Symptoms: 
o Enlarged liver and spleen, swelling in abdomen 
by around 3 months, which may progress with 
age 
o Feeding issues, failure to thrive 
o Frequent respiratory functions 
o Red spot in the eye 
o Irritability
A

Niemann-pick disease types A and B

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21
Q

NPC 1

A

membrane bound

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22
Q

NPC2

A

Soluble

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23
Q

mutations in gene encoding glucocerebrosidase (accumulates primarily in phagocytes)

A

Gaucher disease

-activation of macrophages

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24
Q

o Most common, accounting for 99% of cases
o Does not involve the brain
o Splenic and skeletal involvements dominate
o It is principally found in Jews of European
stock

A

type 1 or chronic non-neuropathic form

25
Q

o No predilection for Jews
o Progressive CNS involvement leading to
death at an early age.

A

Type 2 or Acute Neuronopathic Gaucher

disease

26
Q

o Systemic involvement of Type I but have
progressive CNS disease that usually begins
in adolescence or early adulthood
o Gaucher cells – distended phagocytic cells.
o Found in spleen, liver, bone marrow, lymph,
nodes, tonsils, thymus, and Peyer’s patches
(tissues with macrophages)
o With fibrillary type of cytoplasm (like crumpled
tissue paper)

A

Type 3 or Chronic Neuronopathic Form

27
Q

The glycosaminoglycans that accumulate in MPSs

are

A

o Dermatan sulphate
o Heparan sulphate
o Keratan sulphate
o Chondroitin sulphate

28
Q

hunter syndrome

A

x-linked

29
Q

▪ Deficiency of α-I-iduronidase
▪ Life expectancy of children with MPS I-H is 6-10
years, and death is often a result of cardiac
complications

A

Mucopolysaccaridoses (MPS I-H) Hurler Syndrome

-Accumulation of dermatan and heparan sulphate is
seen in mononuclear phagocytes, fibroblasts and
within endothelium and smooth muscle cells of the
vascular wall.

30
Q

Glucose-6-phosphatase

deficiency

A

Glycogenosis Type I

31
Q
  • Acid maltase deficiency

(AMD); Pompe disease

A

Glycogenosis Type II

32
Q

Liver phosphorylase

deficiency

A

Glycogenosis Type VI

33
Q

Brancher enzyme

deficiency; Andersen disease

A

Glycogenosis Type IV

34
Q

Muscle phosphorylase

deficiency; McArdle disease

A

Glycogenosis Type V

35
Q
  • Debrancher enzyme

deficiency; Cori – Forbes disease

A

Glycogenosis Type III

36
Q

Most familial cancers are inherited as _________

A

autosomal

dominant

37
Q

Alternating pattern of

light and dark bands

A

Giemsa Stain

38
Q

Any exact multiple of the haploid number (23)

A

Euploid

39
Q

one homologous chromosome in meiosis
or one chromatid in mitosis lags behind and is left out of
the cell nucleus. The result is one normal cell and one cell
with monosomy.

A

Anaphase lag -

40
Q

Non-Homologous Chromosomes (n)

A

HAPLOID

41
Q

Pairs of Homologous Chromosomes (2n)

A

DIPLOID

42
Q

When a normal egg combines with an aneuploid sperm it
will form 2n+1 (an extra chromosome). If the extra
chromosome happens in Chromosome 21 then it will be
________

A

Downs Syndrome.

43
Q

special form of deletion.
Produced when the break occurs at both ends of a
chromosome ends

A

Ring chromosome

44
Q

involves two breaks within a single
chromosome with reincorporation of the inverted,
intervening segment (not much problematic because
there is no genetic loss) The genes here will still be
present, therefore there is not much of a phenotypic
effect.

A

Inversion

45
Q

when one arm of a chromosome
is lost and the remaining arm is duplicated, resulting
in a chromosome consisting of two short arms only or
of two long arms.

A

Isochromosome

46
Q

the small
chromosome is unfortunately lost. One of the
causes of down syndrome- which is not in excess
of chromosome but an excess of chromosomal
material.

A

Robertsonian translocation

47
Q

disorders – DiGeorge syndrome and velocardiofacial

syndrome.

A

CHROMOSOME 22q11.2 DELETION SYNDROME

48
Q

Trisomy 18

A

(Edwards syndrome)

49
Q

Trisomy 13

A

Patau syndrome

50
Q

Clinical features can be attributed to (1) aneuploidy
and the impact of increased gene dosage by the
supernumerary X and (2) presence of hypogonadism

A

KLINEFELTER SYNDROME (47, XXY)

51
Q

Eunuchoid body habitus with abnormally long legs,
small atrophic testes often associated with a small
penis, lack od such secondary male characteristics as
deep voice, beard, and male distribution of pubic hair.
Gynecomastia may be present.

A

KLINEFELTER SYNDROME (47, XXY)

52
Q

▪ Results from complete or partial monosomy of the X
chromosome
▪ Characterized primarily by hypogonadism in
phenotypic females
▪ Most common sex chromosome abnormality in
females

A

TURNER SYNDROME (47,X)

hermaphrodism and pseudo-hermaphrodism.

53
Q

implies the presence of both
ovarian and testicular tissues. – It means to say that
they have an ovarian tissue that secretes estrogen
and a testicular tissue which secrets testosterone.

A

True hermaphrodite

54
Q

represents a disagreement
between the phenotypic (what is being seen) and
gonadal sex (genotype) (i.e., a female pseudohermaphrodite has ovaries but externally male
genitalia

A

Pseudo-hermaphrodite

55
Q

▪ The prototype of diseases in which the mutation is
characterized by a long repeating sequence of three
nucleotides.
▪ Second most common genetic cause of mental
retardation after Down syndrome.
▪ It is caused by a trinucleotide mutation in the familial
mental retardation-1 (FMR1) gene

A

FRAGILE X SUNDROME

56
Q

o Expansions affecting Noncoding regions:

A
  • Fragile X syndrome
  • Friedrich ataxia
  • Myotonic dystrophy
57
Q

Expansions affecting Coding regions:

A
  • Spino-bulbar muscular atrophy
  • Huntington disease
  • Haw River syndrome
  • Spino-cerebellar ataxia
58
Q

all cases the deletion
affects the paternally derived chromosome 15.
Characterized by mental retardation, short stature,
hypotonia, profound hyperphagia, obesity, small
hands and feet, and hypogonadism.

A

Prader-Willi syndrome

59
Q

deletion of the same
chromosomal region derived from their mothers:
characterized by mentally retarded, but in addition
they present with ataxic gait, seizures, and
inappropriate laughter. Because of their laughter
and ataxia, they have been referred to as “happy
puppets.”

A

Angelman syndrome

Pathology (31 decks)

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