Diseases
Molecular Biology
Molecular Biology
Zellweger Syndrome
Peroxisomes:
High forehead, wekness, up slanting eyes, hypotonia, epicanthic folds, ocular abnormalities
-Reduction/absence peroxisomes
- Mutation of genes encoding for peroxide
- accumulate lipids in Cell
Congential disorders of glycosylation (CDG)
Gogi Complex
- abnormal glycosylation
- deficiency in 34 different glycosylation enzymes/glycosylation linked transport proteins
- Mental retardation, seizures, liver disease
- High forehead, very thin upper lip, large, floppy ears
Type 1: inverted nipples
Tay Sachs
Lysosome
- lack of beta-N-hexosamininidase A
- large amounts of gangliosides accumulate in nerve cells of brain
- premature death of cells
no cure/treatment available
- symptoms show at 6 months age, when accumulation of gangliosides causes nerves to die
-> Blindness, mental retardation, deathness, paralysis
Gaucher Disease
- lack of beta- glucosidase
- cell cant degrade glycosulseramide
- Lipid accumulation in cell
-enlargment spleen + liver
-anemia + fractures
X- linked recessive ichtyosis (x-Ri)
Fish skin, epithelia cant fall down normally
Cell junctions not dissolved btw epithelial cells
Familial hypercholersterolemia
FH
Cholesterol uptake disturbed
- Endocytosis: uptake of Cholesterol disturbed +accumulates in body
- mutation in gene for apoliprotein B (adaptive Protein) (LDL receptor : LDL accumulates in blood)
Causes early CVD: atherosclerosis, yellowish patches, lumbs on skin, early hear arttacks
Choroideremia
Disturbance of vesicular transport
Abnormal RAB escort protein (REP)
Established case:
- atrophy of retinal pigment epithelium + choroid (degeneration)
- large choroidal blood vessels
-> Progressive loss of vision
End stage:
white out: total choroidal atrophy (schwund) + exposure of sclera
Choroideremia
Disturbance of vesicular transport
Abnormal RAB escort protein (REP)
Established case:
- atrophy of retinal pigment epithelium + choroid (degeneration)
- large choroidal blood vessels
-> Progressive loss of vision
End stage:
white out: total choroidal atrophy (schwund) + exposure of sclera
Kearns Sayre Syndrome
Mitochdondrium
Paralysis eye muscles (Chronic progressive external ophthalmoplegia (PEO)
Slowly progressive multi system disease
Begins: dropping of eyelids (ptosis)
Pigmentary Retinopathy
Degeneration of retina: abnormal accumulation of pigmented material
Lebers hereditary optic neuropathy
Young adult males (80-90%)
degeneration of retinal ganglion cells
Bilateral painless
Loss of vision
Charcot Marie tooth disease
Cytoskeleton
-damage of peripheral nerves
- progressive damage of axons
- lack of muscle + high arch
lysosome storage disease
- Path. changes in neurons
- Growth of ectopic dendrites
- Formation of new synaptic connections
- enlargment of axons
- Neuron death
Griscelli#s syndrome
Cytoskeleton protein defects for vesicle transport
Immuen deficiency, Albinism, blood clotting (Gerinnung)
Melanocytes (pigment cell) abnormal -> Melanosomes not transported because abnormal microtubules
Abnormal receptor function
TFS / AIS
TFS: no activity of testosteron receptr, genetic man (XY chromosomes)
AIS: Problesm with androgen receptor, masculin undeveleped, unfertile
Metopic syntosis - trigonecephalia
Fibroblast growth factor receptor (FGR)
->Mutant receptor can pair with normal receptor but dimer cannot transmit signal
Metopic suture stops frowing before finished
Mc Cune Albright - Café au lait pigmentation
Abnormal G Protein subunit
Mutation: Abnormal G protein subunit of cell
Stains on skin, premature puberty (F)
alpha subunit stays active -> high levels of cAMP
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Lernkarten
Zellweger Syndrome
Peroxisomes:
High forehead, wekness, up slanting eyes, hypotonia, epicanthic folds, ocular abnormalities
-Reduction/absence peroxisomes
- Mutation of genes encoding for peroxide
- accumulate lipids in Cell
Congential disorders of glycosylation (CDG)
Gogi Complex
- abnormal glycosylation
- deficiency in 34 different glycosylation enzymes/glycosylation linked transport proteins
- Mental retardation, seizures, liver disease
- High forehead, very thin upper lip, large, floppy ears
Type 1: inverted nipples
Tay Sachs
Lysosome
- lack of beta-N-hexosamininidase A
- large amounts of gangliosides accumulate in nerve cells of brain
- premature death of cells
no cure/treatment available
- symptoms show at 6 months age, when accumulation of gangliosides causes nerves to die
-> Blindness, mental retardation, deathness, paralysis
Gaucher Disease
- lack of beta- glucosidase
- cell cant degrade glycosulseramide
- Lipid accumulation in cell
-enlargment spleen + liver
-anemia + fractures
X- linked recessive ichtyosis (x-Ri)
Fish skin, epithelia cant fall down normally
Cell junctions not dissolved btw epithelial cells
Familial hypercholersterolemia
FH
Cholesterol uptake disturbed
- Endocytosis: uptake of Cholesterol disturbed +accumulates in body
- mutation in gene for apoliprotein B (adaptive Protein) (LDL receptor : LDL accumulates in blood)
Causes early CVD: atherosclerosis, yellowish patches, lumbs on skin, early hear arttacks
Choroideremia
Disturbance of vesicular transport
Abnormal RAB escort protein (REP)
Established case:
- atrophy of retinal pigment epithelium + choroid (degeneration)
- large choroidal blood vessels
-> Progressive loss of vision
End stage:
white out: total choroidal atrophy (schwund) + exposure of sclera
Choroideremia
Disturbance of vesicular transport
Abnormal RAB escort protein (REP)
Established case:
- atrophy of retinal pigment epithelium + choroid (degeneration)
- large choroidal blood vessels
-> Progressive loss of vision
End stage:
white out: total choroidal atrophy (schwund) + exposure of sclera
Kearns Sayre Syndrome
Mitochdondrium
Paralysis eye muscles (Chronic progressive external ophthalmoplegia (PEO)
Slowly progressive multi system disease
Begins: dropping of eyelids (ptosis)
Pigmentary Retinopathy
Degeneration of retina: abnormal accumulation of pigmented material
Lebers hereditary optic neuropathy
Young adult males (80-90%)
degeneration of retinal ganglion cells
Bilateral painless
Loss of vision
Charcot Marie tooth disease
Cytoskeleton
-damage of peripheral nerves
- progressive damage of axons
- lack of muscle + high arch
lysosome storage disease
- Path. changes in neurons
- Growth of ectopic dendrites
- Formation of new synaptic connections
- enlargment of axons
- Neuron death
Griscelli#s syndrome
Cytoskeleton protein defects for vesicle transport
Immuen deficiency, Albinism, blood clotting (Gerinnung)
Melanocytes (pigment cell) abnormal -> Melanosomes not transported because abnormal microtubules
Abnormal receptor function
TFS / AIS
TFS: no activity of testosteron receptr, genetic man (XY chromosomes)
AIS: Problesm with androgen receptor, masculin undeveleped, unfertile
Metopic syntosis - trigonecephalia
Fibroblast growth factor receptor (FGR)
->Mutant receptor can pair with normal receptor but dimer cannot transmit signal
Metopic suture stops frowing before finished
Mc Cune Albright - Café au lait pigmentation
Abnormal G Protein subunit
Mutation: Abnormal G protein subunit of cell
Stains on skin, premature puberty (F)
alpha subunit stays active -> high levels of cAMP
