Disorders resulting from Defects in Lysosomal Function

1
Disorders resulting from Defects in Lysosomal
Function

• Group two
• Gai Fei 1080800055
• Cui Xiaoqing 1080800052

2
Review Lysosomes functions

• phagocytosis(??)
• autophagy(??)mitochondria
• endocytosis(????)

Figure 1two kinds of lysosome
3
Review Lysosomal function
autophagy
endocytosis phagocytosis
Figure 2 Primary lys fuse with either phagocytic
or autophagic vesicles, forming residual bodies
that either undergo exocytosis(??) or are
retained in the cell.
4
Reviewlysosomal enzymes' modification
Figure3 Phosphorylation of mannose residues on
lysosomal enzymes. The lysosomal enzyme can be
stabile in low PH environment.
5
(No Transcript)
6
Lysosomal storage diseases
Figure 4The cell of patients suffer Icell
disease.
7
Introduce

• Pompe disease
• Absence ofa-glucosidase glycogen
  ofaaccumulated swelling of the
  organelles and irreversible damage to the cells
  and tissues .
• lysosomal storage diseases
• Characterized by the deficiency of a single
  lysosomal enzyme and the corresponding
  accumulation of undergraded substrate.

8
Lysosomal Storage Diseases
9
Diagnosis

• Tay-Sachs disease
• Deficiency of the enzyme ß-N-hexosaminidase A
  ganglioside accumulates
  progressive mental and motor retardation
• Diagnosis
• identification of carriers,genetic counseling,
  and prenatal diagosis by amniocentesis

10
Treatment

• Gaucher's disease
• Deficiency of the enzyme glucocerebrosidase
  glucocerebroside accumulates enlarged
  spleen and liver, anemia.
• Treatment
• enzyme replacement therapy
• substrate reduction therapy

11

• enzyme replacement therapy
• infuse normal human enzyme
• infuse purified enzyme from human placental
  tissue and treat with 3 different glycosidase to
  remove terminal sugarsv
• substrate reduction therapy
• small molecular-weight drag is administered to
  inhibit the sythesis of the substances
• bone marrow transplantation

12