Soraia Poloni1, Poli Mara Spritzer2, Roberta H Mendes3, Vânia D'Almeida4, Kamila Castro5, Fernanda Sperb-Ludwig3, Johanna Kugele6, Sara Tucci6, Henk J Blom6, Ida V D Schwartz7. 1. Post-Graduation Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; BRAIN Laboratory (Basic Research and Advanced Investigations in Neurosciences) - Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil. 2. Gynecological Endocrinology Unit, Division of Endocrinology, Hospital de Clinicas de Porto Alegre, Department of Physiology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil. 3. BRAIN Laboratory (Basic Research and Advanced Investigations in Neurosciences) - Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil. 4. Laboratory of Inborn Errors of Metabolism, Department of Psychobiology, Universidade Federal de São Paulo, São Paulo, Brazil. 5. Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil. 6. Laboratory for Clinical Biochemistry and Metabolism, University Medical Center, Freiburg, Germany. 7. Post-Graduation Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; BRAIN Laboratory (Basic Research and Advanced Investigations in Neurosciences) - Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil. Electronic address: ischwartz@hcpa.edu.br.
Abstract
BACKGROUND: We describe body composition, lipid metabolism and Stearoyl-CoA desaturase-1 (SCD-1) indices in patients with classical homocystinuria (HCU). METHODS: Eleven treated HCU patients and 16 healthy controls were included. Body composition and bone mineral density were assessed by dual X-ray absorptiometry. Sulfur amino acids (SAA) and their derivatives (total homocysteine, cysteine, methionine, S-adenosylmethionine, S-adenosylhomocysteine, and glutathione), lipids (free fatty acids, acylcarnitines, triglycerides and lipoproteins), glucose, insulin, leptin, adiponectin, and isoprostanes were measured in plasma. Insulin resistance was evaluated by HOMA-IR. To estimate liver SCD-1 activity, SCD-16 [16:1(n-7)/16:0] and SCD-18 [18:1(n-9)/18:0] desaturation indices were determined. RESULTS: In HCU patients, SCD-16 index was significantly reduced (p=0.03). A trend of an association of SCD-16 index with cysteine was observed (r=0.624, p=0.054). HCU patients displayed lower lean mass (p<0.05), with no differences in fat mass percentage. Leptin and low-density lipoprotein concentrations were lower in HCU patients (p<0.05). Femur bone mineral density Z-scores were correlated with plasma cysteine (r=0.829; p=0.04) and total homocysteine (r=-0.829; p=0.04) in HCU patients. CONCLUSIONS: We report alterations in leptin and SCD-1 in HCU patients. These results agree with previous findings from epidemiologic and animal studies, and support a role for SAA on lipid homeostasis.
BACKGROUND: We describe body composition, lipid metabolism and Stearoyl-CoA desaturase-1 (SCD-1) indices in patients with classical homocystinuria (HCU). METHODS: Eleven treated HCU patients and 16 healthy controls were included. Body composition and bone mineral density were assessed by dual X-ray absorptiometry. Sulfur amino acids (SAA) and their derivatives (total homocysteine, cysteine, methionine, S-adenosylmethionine, S-adenosylhomocysteine, and glutathione), lipids (free fatty acids, acylcarnitines, triglycerides and lipoproteins), glucose, insulin, leptin, adiponectin, and isoprostanes were measured in plasma. Insulin resistance was evaluated by HOMA-IR. To estimate liver SCD-1 activity, SCD-16 [16:1(n-7)/16:0] and SCD-18 [18:1(n-9)/18:0] desaturation indices were determined. RESULTS: In HCU patients, SCD-16 index was significantly reduced (p=0.03). A trend of an association of SCD-16 index with cysteine was observed (r=0.624, p=0.054). HCU patients displayed lower lean mass (p<0.05), with no differences in fat mass percentage. Leptin and low-density lipoprotein concentrations were lower in HCU patients (p<0.05). Femur bone mineral density Z-scores were correlated with plasma cysteine (r=0.829; p=0.04) and total homocysteine (r=-0.829; p=0.04) in HCU patients. CONCLUSIONS: We report alterations in leptin and SCD-1 in HCU patients. These results agree with previous findings from epidemiologic and animal studies, and support a role for SAA on lipid homeostasis.
Authors: Kelsey M Mangano; Sabrina E Noel; Chao-Qiang Lai; Jacob J Christensen; Jose M Ordovas; Bess Dawson-Hughes; Katherine L Tucker; Laurence D Parnell Journal: Bone Date: 2020-12-02 Impact factor: 4.398
Authors: Viktor Kožich; Jitka Sokolová; Andrew A M Morris; Markéta Pavlíková; Florian Gleich; Stefan Kölker; Jakub Krijt; Carlo Dionisi-Vici; Matthias R Baumgartner; Henk J Blom; Martina Huemer Journal: J Inherit Metab Dis Date: 2020-12-28 Impact factor: 4.982