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Tahani, Natascia, Choudhary, Surabhi, Boivin, Chris, Dawson, Charlotte, Gittoes, Neil and Geberhiwot, Tarekegn (2020) Very high bone mineral density in a monogenic form of obesity-associated insulin resistance. Bone. p. 115756. ISSN 1873-2763. This article is available to all UHB staff and students via ASK Discovery tool http://tinyurl.com/z795c8c by using their UHB Athens login IDs
Full text not available from this repository.Abstract
INTRODUCTION
Alström syndrome (ALMS) is an ultra-rare metabolic disorder caused by biallelic loss-of-function in the Alms1 gene which encodes a ubiquitously expressed centrosomal protein of the primary cilium. Although ALMS is characterised by several metabolic and hormonal dysfunctions that can lead to an increased risk of developing osteoporosis and bone fracture, an increased BMD have been observed. The aim of this study was to characterise the anthropometric, clinical, genetic and densitometric features of bone health in a large adult UK cohort of subjects with ALMS.
METHODS
Twenty-three patients with ALMS and 23 age-matched male control subjects were recruited. Lumbar spine (LS) and total hip (TH) bone mineral density (BMD) were evaluated by DXA in all subjects. A CT scan to assess the spinal bone architecture was performed in ALMS patients with raised lumbar density. Blood analysis for biochemical parameters and thyroid and sex hormones was performed in all ALMS patients.
RESULTS
LS Z-score levels were higher than +2 SD in 35% of all ALMS study participants, of whom 75% were men and 25% were women. TH Z-scores were higher than +1 SD 13% of patients and all of them have higher than expected lumbar Z-score. An extremely high BMD was found in two of the oldest patients (LS Z-score +10.8 and +15.3 SD).
CONCLUSION
ALMS patients tend to have high levels of BMD that increase with age, in particular of the trabecular bones. Although obesity and lifelong IR can be responsible for the increase in BMD, at least in part, of a possible signalling role of Alms1 protein as a bone-forming factor is plausible.
| Item Type: | Article |
|---|---|
| Additional Information: | This article is available to all UHB staff and students via ASK Discovery tool http://tinyurl.com/z795c8c by using their UHB Athens login IDs |
| Subjects: | WK Endocrine system. Endocrinology WN Medical imaging. Radiology |
| Divisions: | Ambulatory Care > Endocrinology |
| Related URLs: | |
| Depositing User: | Jamie Edgar |
| Date Deposited: | 24 Nov 2020 14:09 |
| Last Modified: | 24 Nov 2020 14:09 |
| URI: | http://www.repository.uhblibrary.co.uk/id/eprint/3715 |
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