SNP Shot: Genomic Insights

Gaucher disease is a genetic disorder impacting various organs and tissues. Symptoms vary significantly among individuals. Researchers classify Gaucher disease into different types based on their specific characteristics.

Type 1 Gaucher disease, the most prevalent form, is also known as non-neuronopathic Gaucher disease because it generally spares the brain and spinal cord (central nervous system). Its severity ranges from mild to severe, with symptoms appearing from childhood to adulthood. Common signs and symptoms include an enlarged liver and spleen (hepatosplenomegaly), low red blood cell count (anemia), easy bruising due to low platelet count (thrombocytopenia), bone problems like pain and fractures, and joint issues such as arthritis.

Types 2 and 3 Gaucher disease, termed neuronopathic forms, involve central nervous system complications. Besides the previously mentioned symptoms, these types can cause abnormal eye movements, seizures, and brain damage. Type 2 Gaucher disease typically presents life-threatening issues in infancy. Type 3 Gaucher disease also affects the nervous system but progresses more slowly than type 2.

The most critical form of Gaucher disease, a rare variant of type 2, is called the perinatal lethal form. This condition leads to severe or fatal complications before birth or during infancy. Characteristics of the perinatal lethal form may include extensive swelling due to fluid buildup before birth (hydrops fetalis), dry, scaly skin (ichthyosis) or other skin abnormalities, hepatosplenomegaly, distinctive facial features, and significant neurological problems. Tragically, most infants with the perinatal lethal form survive only a few days after birth.

Another type, cardiovascular Gaucher disease (or type 3c), primarily affects the heart, causing hardening (calcification) of the heart valves. Individuals with this type may also exhibit eye abnormalities, bone disease, and a mildly enlarged spleen (splenomegaly).

Inheritance:

Gaucher disease follows an autosomal recessive inheritance pattern. This means that an individual must inherit a mutated copy of the gene from both parents. The parents, who each carry one copy of the mutated gene, are typically asymptomatic carriers.