METHODS: This was a cross-sectional, single-center study involving adults with established COPD (n = 186) divided into those with or without hospital admissions for acute exacerbation. Oral glucose tolerance test (OGTT) was performed in patients with no known history of dysglycemia.
RESULTS: There were 16 patients who had overt diabetes, and 32 had prediabetes following the OGTT. Forty percent had histories of hospital admissions for COPD exacerbations. Both groups demonstrated similar 2-h post prandial glucose, glycated hemoglobin (HbA1c) and fasting blood glucose. The incidences of newly diagnosed dysglycemia were higher in both groups (40.8% vs 34.6%, p = 0.57). Cumulative days of admission (≥6 days/year) and weight (≥65 kg) were identified as predictors for dysglycemia within the study population.
DISCUSSION: This study demonstrated a high number of overt and newly diagnosed dysglycemia among COPD patients who had no previous history of abnormal glucose. Recent acute exacerbations of COPD could have a negative impact on glycemia, although the results did not attain statistical significance. However, there is a need for adequate screening for dysglycemia, particularly among those with frequent acute exacerbations of their condition.
AREAS COVERED: Mitochondrial deficits impact insulin-resistant skeletal muscles, adipose tissue, liver, and pancreatic β-cells, affecting glucose and lipid balance. Exercise emerges as a key factor in enhancing mitochondrial function, thereby reducing insulin resistance. Additionally, the therapeutic potential of mitochondrial uncoupling, which generates heat instead of ATP, is discussed. We explore the intricate link between mitochondrial function and diabetes, investigating genetic interventions to mitigate diabetes-related complications. We also cover the impact of insulin deficiency on mitochondrial function, the role of exercise in addressing mitochondrial defects in insulin resistance, and the potential of mitochondrial uncoupling. Furthermore, a comprehensive analysis of Mitochondrial Replacement Therapies (MRT) techniques is presented.
EXPERT OPINION: MRTs hold promise in preventing the transmission of mitochondrial disease. However, addressing ethical, regulatory, and technical considerations is crucial. Integrating mitochondrial-based treatments requires a careful balance between innovation and safety. Ethical dimensions and regulatory aspects of MRT are examined, emphasizing collaborative efforts for the responsible advancement of human health.
OBJECTIVE: To elaborate on the clinical findings, biochemical data, molecular genetic analysis, and short-term prognosis of 13 GSD1a patients in Malaysia.
METHODS: The information about 13 clinically classified GSD1a patients was retrospectively studied. The G6PC mutation analysis was performed by PCR-DNA sequencing.
RESULTS: Patients were presented with hepatomegaly (92%), hypoglycaemia (38%), poor weight gain (23%), and short stature (15%). Mutation analysis revealed nine heterozygous mutations; eight previously reported mutations (c.155 A > T, c.209 G > A, c.226 A > T, c.248 G > A, c.648 G > T, c.706 T > A, c.1022 T > A, c.262delG) and a novel mutation (c.325 T > C). The most common mutation found in Malaysian patients was c.648 G > T in ten patients (77%) of mostly Malay ethnicity, followed by c.248 G > A in 4 patients of Chinese ethnicity (30%). A novel missense mutation (c.325 T > C) was predicted to be disease-causing by various in silico software.
CONCLUSIONS: The establishment of G6PC molecular genetic testing will enable the detection of presymptomatic patients, assisting in genetic counselling while avoiding the invasive methods of liver biopsy.