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 properly
Phenotype
Enlarged spleen
arthritis
enlarged liver
Anemia
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 tests
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 parents
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 community
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 disorders
people with these disorders will experience similar symptoms
Lysosomal storage disorders
inherited metabolic disorders
Cystinosis
Batten Disease
Fabry Disease
The genetic mutation of the GBA gene
mutations are inherited from the parents
leads to the reduction of genetic diversity
increasing the frequency and risk of a new disease in the community
lead to Jewish communities having a higher percentage of gaucher disease
because of their isolated community with similar alleles and genes