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Chemistry Essay Globular Protein

Write an essay on the factors that contribute to the structure of a

globular protein and discuss an example where inappropriate or
incorrect protein synthesis results in pathological condition.

Disease: Gauchers Disease

Incorrect folding of beta-glucocerebrosidase (enzyme)

Genetic Disease
Most common type of lysosomal storage disease
Lysosomes contain enzymes vital to prevent build up of substance
Lack functioning beta-glucocerebrosidase enzymes
Enzyme acts on the glycolipid glucocerebroside
Needed to cleave, by hydrolysis, the beta-glucosidic linkage of the
chemical glucocerebroside, an intermediate in glycolipid metabolism
Present in lysosomes
Glucosylcermide type of sphingolipid
glucosylceramide accumulates, particularly in white blood cells, most
often macrophages (mononuclear leukocytes)
can collect in the spleen, liver, kidneys, lungs, brain, and bone
enlarged spleen and liver, liver malfunction, skeletal disorders and
bone lesions that may be painful, severe neurologic complications,
swelling of lymph nodes and (occasionally) adjacent joints, distended
abdomen, a brownish tint to the skin, anemia, low blood platelets, and
yellow fatty deposits on the white of the eye (sclera).
Three types, only type 2 & 3 affects the central nervous system
Type 1: adult or non-neuronopathic form. Most common, enlarged
liver and spleen, anaemia,
Type 2: Infantile, This causes rapidly progressive neurovisceral
storage disease and death during infancy
Type 3: juvenile or Norrbottnian form (chronic or subacute
neuronopathic). This is less rapidly progressive neurovisceral storage
disease, causing death in childhood or early adulthood

Autosomal Recessive
Mutation in GBA gene, chromosome 1, glucoidase, beta, acid.
Provides instructions for making enzyme beta-glucocerebrosidase,
active in lysosomes, break down toxic substances.
Housekeeping enzymes, helps hydrolyse glucocerebroside to
produce sugar and ceramide.
waste builds up in the cells, eventually undermining its proper function
300 unique mutations
203 missense mutations, 18 nonsense mutations, 36 small insertions
or deletions that lead to either frameshifts or in-frame alterations, 14
splice junction mutations, and 13 complex alleles carrying two or
more mutations in cis