Golgi

Diseases

15 CONGENITAL DISORDERS OF GLYCOSYLATION (CDG).
Mutations in genes that encode glycosylation enzymes or glycosylation-linked
transport proteins
CDG is usually lethal by the age of 2.
mental retardation, seizures, liver disease.

INCLUSION-CELL (I-CELL) DISEASE (no Cure)
Defective phosphotransferase (an enzyme of the Golgi apparatus).
Transfers phosphate to mannose residues on specific proteins (marker for
targetting to lysosomes).
Proteins are instead excreted outside the cell -- the default pathway for proteins
moving through the Golgi apparatus

Mannose 6 Phosphate

Failure to thrive
Developmental delays
Sever symp0otms at birth
Abnormal skeletal development, coarse facial features, and restricted joint
movement.
Enlarged organs, (hepatomegaly, splenomegaly, heart valves).
Stiff claw-shaped hands

ALZHIEMERS
Irreversible neurodegenerative disorder
Leading cause of dementia in elderly
Death with 7-10 yrs of diagnosis

Change in golgi size, small golgi
Sensitive marker for changes in neuronal metabolic activity