Hematopoietic Stem Cell Progenitors Driving Metabolic Disturbance in Alström Syndrome.
Abstract
Alström syndrome (AS), or Alström-Hallgren syndrome, is a rare, autosomal recessive, heterogeneous, multisystemic inborn error of metabolism due to mutation in the ALMS1 gene located in the short arm of chromosome 2. Diagnosis is based on identification of the disease-causing mutation in the ALMS1 gene and clinical indicators. As a disease entity, metabolic syndrome has parameters that define its occurrence across different disease conditions, whether genetic or acquired (1). AS is a monogenic metabolic syndrome characterized by childhood-onset obesity, extreme insulin resistance, early-onset type 2 diabetes, accelerated nonalcoholic fatty liver disease, premature cardiovascular disease, hypertension, and dyslipidemia (2). Other hallmarks of ALMS include retinal rod-cone dystrophy, hearing loss, cardiomyopathy hypogonadism, and hypothyroidism (3, 4).AS has no disease-specific therapy and the condition is relentlessly progressive, leading to premature death. More translational studies are needed to better understand the different phenotypes and progression of the disease. Such studies should seek to reveal which phenotypes are associated with metabolic inflexibility, since early metabolic derangement and the accelerated consequence of it is a hallmark of AS-related morbidity and mortality. There is also a need to research how the ALMS1 gene alteration leads to metabolic derangement of an extreme nature at an early stage of the patient’s life.Citation
Ademolu AB, Geberhiwot T. Hematopoietic Stem Cell Progenitors Driving Metabolic Disturbance in Alström Syndrome. Endocrinology. 2023 Aug 1;164(9):bqad110. doi: 10.1210/endocr/bqad110. PMID: 37449512.Type
ArticlePMID
37449512Journal
Endocrinologyae974a485f413a2113503eed53cd6c53
10.1210/endocr/bqad110