Gaucher Disease
In 1882 a French physician, Philippe Charles Ernest Gaucher, first discovered Gaucher disease in a 32 year old woman; she had a swollen liver and spleen. Gaucher disease is a genetic disease meaning it is an abnormality in an individual’s DNA. Gaucher disease (GD) is described as an inherited disorder known to affect many of the body’s organs, such as the liver, spleen, bones, bone marrow and in severe cases the brain. It is also the most common lysosomal storage disease. Lysosomal storage disease is defined as a gathering of glucocerebrosidase (enzymes) that do not function properly (Nakamura, Hattori and Endo, YEAR). Gaucher disease can vary in the degree of its severity from person to person and is classified into three …show more content…
Type 3a presents progressive neurologic involvement dominated by dementia and myoclonus (involuntary muscle twitching). Type 3b presents with aggressive skeletal and visceral symptoms. The neurological symptoms are limited to horizontal supranuclear gaze palsy. Type 3c presents with neurological involvement limited to horizontal supranuclear gaze palsy, cardiac valve calcification and corneal opacities but with little visceral involvement (Balicki and Beutler, YEAR).
Enlargement of the liver and spleen is characteristic in all types of Gaucher disease patients. In addition to hepatosplenomegaly, bleeding is also common. Many times bleeding occurs because of thrombocytopenia, a deficient production of platelets. In severe cases, the liver can fill the entire abdomen. Major splenomegaly may also occur. Asymptomatic individuals can even experience splenomegaly (Pastores et al., YEAR). The symptoms of type 1 Gaucher disease are due to engorged macrophages that result in hepatosplenomegaly with resultant dysfunction of the liver and spleen …show more content…
Gaucher disease is on gene GBA; 2629 (Pastores, Hughes, YEAR). The alleles of the GBA gene are not yet known, however, there have been multiple testings’ of southern blots. Although, due to the lack of nomenclature (base pairing) understanding, there has not been a definite number of alleles found (Futerman and Zimran, YEAR). Yet, one study was able to find a few mutant alleles. The results of this study found one mutation consisted of a single-base substitution in three different codons: codon 444 changed from Leu (CTG) to Pro (CCG); codon 456 changed from Ala (GCT) to Pro (CCT); and codon 460 changed Val (GTG) to Val (GTC). This sequence is identical to the pseudogene region in exon 10 and therefore is referred to as a “pseudo pattern”. The other mutation found was a single-base substitution in codon 463; Cys changed to Arg. Overall, this study found the mutant proteins produced alter enzymatic properties and therefore a person will express Gaucher disease (Hong CM et al.,
In 1882 a French physician, Philippe Charles Ernest Gaucher, first discovered Gaucher disease in a 32 year old woman; she had a swollen liver and spleen. Gaucher disease is a genetic disease meaning it is an abnormality in an individual’s DNA. Gaucher disease (GD) is described as an inherited disorder known to affect many of the body’s organs, such as the liver, spleen, bones, bone marrow and in severe cases the brain. It is also the most common lysosomal storage disease. Lysosomal storage disease is defined as a gathering of glucocerebrosidase (enzymes) that do not function properly (Nakamura, Hattori and Endo, YEAR). Gaucher disease can vary in the degree of its severity from person to person and is classified into three …show more content…
Type 3a presents progressive neurologic involvement dominated by dementia and myoclonus (involuntary muscle twitching). Type 3b presents with aggressive skeletal and visceral symptoms. The neurological symptoms are limited to horizontal supranuclear gaze palsy. Type 3c presents with neurological involvement limited to horizontal supranuclear gaze palsy, cardiac valve calcification and corneal opacities but with little visceral involvement (Balicki and Beutler, YEAR).
Enlargement of the liver and spleen is characteristic in all types of Gaucher disease patients. In addition to hepatosplenomegaly, bleeding is also common. Many times bleeding occurs because of thrombocytopenia, a deficient production of platelets. In severe cases, the liver can fill the entire abdomen. Major splenomegaly may also occur. Asymptomatic individuals can even experience splenomegaly (Pastores et al., YEAR). The symptoms of type 1 Gaucher disease are due to engorged macrophages that result in hepatosplenomegaly with resultant dysfunction of the liver and spleen …show more content…
Gaucher disease is on gene GBA; 2629 (Pastores, Hughes, YEAR). The alleles of the GBA gene are not yet known, however, there have been multiple testings’ of southern blots. Although, due to the lack of nomenclature (base pairing) understanding, there has not been a definite number of alleles found (Futerman and Zimran, YEAR). Yet, one study was able to find a few mutant alleles. The results of this study found one mutation consisted of a single-base substitution in three different codons: codon 444 changed from Leu (CTG) to Pro (CCG); codon 456 changed from Ala (GCT) to Pro (CCT); and codon 460 changed Val (GTG) to Val (GTC). This sequence is identical to the pseudogene region in exon 10 and therefore is referred to as a “pseudo pattern”. The other mutation found was a single-base substitution in codon 463; Cys changed to Arg. Overall, this study found the mutant proteins produced alter enzymatic properties and therefore a person will express Gaucher disease (Hong CM et al.,