BSCL2

Ideogram human chromosome 11

BSCL2

Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2) is a rare autosomal recessive disorder characterized by a lack of body fat (lipodystrophy) from birth. It is caused by mutations in the BSCL2 gene, which plays a crucial role in the formation and maintenance of adipose tissue.

Symptoms

Individuals with BSCL2 typically present with a near-total absence of body fat, giving them a muscular appearance. Other common features include enlarged hands and feet, acromegaloid facial appearance, and prominent veins. Additionally, affected individuals may experience metabolic abnormalities such as insulin resistance and hypertriglyceridemia.

Genetics

BSCL2 is inherited in an autosomal recessive manner, meaning that individuals must inherit two copies of the mutated gene (one from each parent) to develop the condition. The BSCL2 gene provides instructions for producing a protein called seipin, which is essential for the normal development of adipose tissue.

Diagnosis

Diagnosis of BSCL2 is typically based on clinical features, family history, and genetic testing to identify mutations in the BSCL2 gene. Imaging studies such as MRI may also be used to assess the distribution of body fat.

Treatment

There is currently no cure for BSCL2, and treatment focuses on managing the symptoms and associated complications. This may include dietary modifications, physical therapy, and monitoring of metabolic parameters. In some cases, medications such as insulin-sensitizing agents may be prescribed.

Prognosis

The prognosis for individuals with BSCL2 varies depending on the severity of the condition and the presence of associated complications. Early diagnosis and management of metabolic abnormalities can help improve outcomes and quality of life for affected individuals.

Research

Ongoing research into the underlying mechanisms of BSCL2 aims to develop targeted therapies that can address the metabolic and adipose tissue abnormalities associated with the condition. Studies investigating the role of seipin in adipose tissue development and function are also ongoing.