Gaucher Disease
Genetics
Mutations
Genotype
GBA gene is mutated
located on chromosome 1
there is a lack of the GBA enzyme
Responsible for breaking down glucosylceramide
A type of fat
Mutation occurs in both copies of the GBA gene
Changes the amino acid in the GBA enzyme
Which changes the structure of the enzyme
causing the enzyme to not function properlyundefined
Phenotype
Enlarged spleenundefined
arthritisundefined
enlarged liverundefined
Anemiaundefined
decreased amount of red blood cells
Inheritance pattern
Autosomal Recessive
Affects both sexes equally
Two copies of the abnormal gene must be present
Both parents must be carriers
Genetic technologies
Genetic engineering
Enzyme replacement therapy
IV infusions
Prenatal testsundefined
Chorionic villus sampling
Amniocentesis
Evolution
How mutations arose
GBA Enzyme
Genetic mutation
Lead to the lack of the GBA enzyme
leads to a lysosomal storage disease
Gaucher disease
inherited from parentsundefined
Patterns of evolution that lead to this
Mutations occurring inside the body
Founder effect
when a small portion of a large population establishes a new isolated communityundefined
Similarities to other organisms with this mutation
People with Parkinson's disease
GBA mutations cause a major genetic risk factor for getting Parkinson's disease
People with lysosomal storage disorders
Gaucher disease is a lysosomal storage disordersundefined
people with these disorders will experience similar symptomsundefined
Lysosomal storage disordersundefined
inherited metabolic disordersundefined
Cystinosis
Batten Disease
Fabry Diseaseundefined
The genetic mutation of the GBA gene
mutations are inherited from the parentsundefined
leads to the reduction of genetic diversity
increasing the frequency and risk of a new disease in the communityundefined
lead to Jewish communities having a higher percentage of gaucher diseaseundefined
because of their isolated community with similar alleles and genes