GP224 Multisystem mitochondrial diseases in children with maternally inherited complex I deficiency

Abstract

Results Primarily we compared thickness of subcutaneous adipose tissue in girls-carriers of different genotypes in both groups. Girls with android obesity -carriers of AA genotype, thickness of subcutaneous adipose tissue in breast was 1.1 ±0.2cm; AG genotype -0.94±0.2cm; GG-genotype -0.93 ±0.2cm (p AA-AG; AA-GG =0.04). Metabolism parameters: insulin in carriers of AA genotype was 25.2±13.6; AG genotype -15.5±8.3; GG genotype -18.1±11.4 (p AA-AG =0.01); HOMA-IR, 6.1±3.6; 3.4±2.0; 4.4±3.3 (p AA-AG =0.01), respectively. Leptin without statistically significant differences was elevated in AA genotype carriers 67.1±25.1, in contrast to carriers of AG and GG genotypes: 54±26.6; 50.8±26.5, respectively. In girls with a gynoid obesity -carriers of AA genotype, thickness of subcutaneous adipose tissue in thighs was 2.0±0.2cm; AG genotype -2.1±0.3cm; GG-genotype -2.5±0.8cm (p AA-GG =0.03). Metabolism parameters: insulin in AA genotype carriers was 13.4±5.1; AG genotype -11.8±6.3; GG genotype -21±14.2 (p AA-GG =0.04; p AG-GG =0.02). Leptin 34.5±15.7; 32.2 ±16.3; 55.8±19.7 (p AA-GG =0.005; p AG-GG =0.003) respectively. HOMA-IR in carriers of AA genotype was 3.0±1.6; AG genotype -2.6±1.4; GG-genotype -4.5±3.2 (p AG-GG =0.04).Conclusions In girls of android morphotype, the carriage of A-allele is associated with carbohydrate and energy metabolism disorders, and is a risk marker of excess fat deposition in chest area. For a gynoid morphotype, G-allele is a risk marker and is associated with excessive fat deposition in the thighs, as well as with carbohydrate and energy metabolism disorders.