Researchers have identified important protein biomarkers that are useful in discerning mitochondrial hepatopathies from other liver diseases, such as Alagille syndrome, according to an abstract presented at the 2022 Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium: Genetics Meets Environment.
“Mitochondrial hepatopathies are primary mitochondrial genetic disorders that present as acute or chronic liver disease,” Van Hove and colleagues wrote.
The present challenge is the difficulty in differentiating these mitochondrial hepatopathies from other forms of liver disease. Scientists have sought to identify biomarkers that can solve this problem. Two candidates that have shown promise are the protein biomarkers GDF15 and FGF12.
The research team decided to investigate the usefulness of these biomarkers in identifying children with mitochondrial genetic disorders. They recruited participants who were already enrolled in an existing longitudinal multicenter study of pediatric liver disease.
Read more about Alagille syndrome etiology
Among the children studied, the authors of the study reported that normal values were defined in 158 children, which were compared with those of 36 children with mitochondrial genetic disorders. Of these children, 38 had biliary atresia, 38 had alpha-1 antitrypsin deficiency, and 38 had Alagille syndrome.
In terms of GDF15, patients with alpha-1 antitrypsin deficiency had mild elevations of the biomarker, patients with biliary atresia (young subgroup) and Alagille syndrome had moderate elevations, and patients with mitochondrial hepatopathies had significantly elevated levels.
The researchers of this study further demonstrated that GDF15 performed better as a biomarker when comparing patients with mitochondrial hepatopathies to the control group, while FGF21 was more useful when comparing patients with mitochondrial hepatopathies to those with other liver diseases.
“GDF15 and FGF21 are promising biomarkers to identify [mitochondrial hepatopathy] patients with a genetic diagnosis,” the authors of the study concluded.
Van Hove J, Friederich M, Strode D, et al; The Childhood Liver Disease Research Network (ChiLDReN). Analysis of protein biomarkers to identify mitochondrial hepatopathies from other liver diseases. Abstract presented at: 2022 Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium: Genetics Meets Environment; August 30-September 2, 2022; Freiburg, Germany.