Research Article Details
| Article ID: | A11563 |
| PMID: | 30838350 |
| Source: | Acta Myol |
| Title: | Prevalence of metabolic syndrome and non-alcoholic fatty liver disease in a cohort of italian patients with spinal-bulbar muscular atrophy. |
| Abstract: | Spinal-bulbar muscular atrophy (SBMA), is an X-linked motor neuron disease caused by a CAG-repeat expansion in the first exon of the androgen receptor gene (AR) on chromosome X. In SBMA, non-neural clinical phenotype includes disorders of glucose and lipid metabolism. We investigated the prevalence of metabolic syndrome (MS), insulin resistance (IR) and non alcoholic fatty liver disease (NAFLD) in a group of SBMA patients. Forty-seven consecutive patients genetically diagnosed with SBMA underwent biochemical analyses. In 24 patients abdominal sonography examination was performed. Twenty-three (49%) patients had fasting glucose above reference values and 31 (66%) patients had a homeostatic model assessment (HOMA-IR) ≥ 2.6. High levels of total cholesterol were found in 24 (51%) patients, of LDL-cholesterol in 18 (38%) and of triglycerides in 18 (38%). HDL-cholesterol was decreased in 36 (77%) patients. Twenty-four (55%) subjects had 3 or more criteria of MS. A positive correlation (r = 0.52; p < 0.01) was observed between HOMA-IR and AR-CAG repeat length. AST and ALT were above the reference values respectively in 29 (62%) and 18 (38%) patients. At ultrasound examination increased liver echogenicity was found in 22 patients (92 %). In one patient liver cirrhosis was diagnosed. Liver/kidney ratio of grey-scale intensity, a semi-quantitative parameter of severity of steatosis, strongly correlated with BMI (r = 0.68; p < 0.005). Our study shows a high prevalence of IR, MS and NAFLD in SBMA patients, conditions that increase the cardiovascular risk and can lead to serious liver damage, warranting pharmacological and non-pharmacological treatment. |
| DOI: |
| Strategy ID | Therapy Strategy | Synonyms | Therapy Targets | Therapy Drugs | |
|---|---|---|---|---|---|
| S01 | Improve insulin resistance | insulin sensitizer; insulin resistance; glucose tolerance | Biguanide: increases 5-AMP activated protein kinase signaling; SGLT-2 inhibitor; Thiazalidinedione: selective PPAR-γ agonists; GLP-1 agonist | Metformin; Empagliflozin; Canagliflozin; Rosiglitazone; Pioglitazone; Liraglutide | Details |
| S02 | Enhance lipid metabolism | triglyceride-lowering; lipid tolerance; lipid metabolism | 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) inhibitor; Decreases intestinal cholesterol absorption; FXR agonist; ACC inhibitor; FAS inhibitor; DGAT2 inhibitor; SCD-1 inhibitor | Atorvastatin; Ezetimibe; Obeticholic Acid; GS-9674; GS-0976; TVB-2640; IONIS-DGAT2rx; Aramchol; | Details |
| Diseases ID | DO ID | Disease Name | Definition | Class | |
|---|---|---|---|---|---|
| I05 | 9352 | Type 2 diabetes mellitus | A diabetes that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both. A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin. http://en.wikipedia.org/wiki/Diabetes, http://en.wikipedia.org/wiki/Diabetes_mellitus_type_2 | disease of metabolism/inherited metabolic disorder/ carbohydrate metabolic disorder/glucose metabolism disease/diabetes/ diabetes mellitus | Details |
| Drug ID | Drug Name | Type | DrugBank ID | Targets | Category | Latest Progress | |
|---|---|---|---|---|---|---|---|
| D080 | Citrulline | Chemical drug | DB00155 | -- | -- | Under clinical trials | Details |
| D328 | Serine | Chemical drug | DB00133 | SRR | Improve insulin resistance | Under clinical trials | Details |
| D182 | Insulin | Biological drug | DB00030 | INSR agonist; CPE modulator&product of | -- | Under clinical trials | Details |