Alström Syndrome is a rare autosomal recessive disease caused by biallelic mutations of the ALMS1 gene1. Cardiometabolic aspects of the syndrome cause major morbidity and mortality, and include obesity, insulin resistant diabetes, dyslipidaemia, cardiomyopathy, fatty liver and premature atherosclerosis. Image Eleanor McKay Alström Syndrome is a rare autosomal recessive disease caused by biallelic mutations of the ALMS1 gene1. Cardiometabolic aspects of the syndrome cause major morbidity and mortality, and include obesity, insulin resistant diabetes, dyslipidaemia, cardiomyopathy, fatty liver and premature atherosclerosis. How these are caused by loss of the ALMS1 protein, which is located in the cell in the centrosome and at the base of primary cilia, is poorly understood, however. We aim to shed light on this using a combination of cell biology approaches featuring genome editing, and novel animal models of the disease. Working closely with the UK National Alström Service in Birmingham2, and the patient advocacy group Alström UK3, we hope to identify novel tools and treatments to aid clinical care, as well as gaining insights into more common forms of insulin resistance and related diseases. 1.https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=64 2. https://www.uhb.nhs.uk/alstrom.htm 3.http://www.alstrom.org.uk Related Researchers This work is led by Eleanor McKay, a PhD student from England on the 4-year BHF studentship programme. Her undergraduate and first Masters degree were based in Oxford, which was where she developed an interest in diabetes, endocrinology and metabolism. Funding British Heart Foundation Wellcome Trust This article was published on 2024-03-19
