‘Smith-Lemli-Opitz syndrome is a rare developmental disorder caused by mutations in the enzyme DHCR7 responsible for the final step in the production of cholesterol.’
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SLOS is a rare developmental disorder caused by mutations in the enzyme DHCR7 responsible for the final step in the production of cholesterol. DHCR7 mutations prevent 7-dehydrocholesterol (7DHC) conversion to cholesterol. Impaired cholesterol synthesis underlies a group of human disorders, including SLOS, that are characterized by cognitive impairment, congenital malformations and distinct behavioral phenotypes, including autism. Specific to SLOS, patients experience delayed development and malformations in certain organs like the brain, heart and liver.
Francis and his team used induced pluripotent stem cells, which have the ability to form many types cells, derived from patient skin cells to reveal novel changes in cellular events regulated by cholesterol synthesis, including a set of proteins critical for brain development and function known as the Wnt signaling pathway. Further, Francis noted that 7DHC accumulation, not cholesterol deficiency, was a hallmark of these cells.
Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia (CLL) is one of the most common types of adult leukemia and is considered as one of the ‘good cancers’.
Chronic Lymphocytic Leukemia (CLL) is one of the most common types of adult leukemia and is considered as one of the ‘good cancers’.
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Bone Marrow Aspiration and Biopsy-Indications-Common Sites-Performed-Risks-FAQs
Bone marrow biopsy and aspiration is the removal of some bone marrow tissue for diagnosis and management of cancers of blood cells and multiple myeloma.
Bone marrow biopsy and aspiration is the removal of some bone marrow tissue for diagnosis and management of cancers of blood cells and multiple myeloma.
