Coq8b, also known as ADCK4, is a gene involved in the biosynthesis of coenzyme Q10 (CoQ10) [7]. CoQ10 plays a vital role in the electron transport chain within mitochondria, facilitating energy production through oxidative phosphorylation [1,2,3,4,5,6,7,9]. The proper function of Coq8b is crucial for normal cellular metabolism and energy homeostasis. Genetic models, such as gene knockout studies, could potentially provide insights into its specific functions in vivo.

Mutations in Coq8b are a significant cause of steroid-resistant nephrotic syndrome (SRNS) and other kidney-related disorders [1,2,3,4,5,6,9]. In Chinese children, it is one of the common causes of adolescent-onset proteinuria and/or chronic kidney disease (CKD) of unknown etiology [1]. Patients with Coq8b mutations often present with proteinuria and/or advanced CKD, and renal biopsy typically shows focal segmental glomerulosclerosis [1,4,5,9]. Early detection of Coq8b-related nephropathy, followed by CoQ10 supplementation combined with angiotensin-converting enzyme (ACE) inhibitor, can slow the progression of renal dysfunction [1,9]. Kidney transplantation in these patients shows a low recurrence rate of proteinuria [1,4]. Some studies also suggest that Coq8b may be associated with non-syndromic retinitis pigmentosa and could be a modifier of thoracic aortic aneurysm severity [7,8].

In conclusion, Coq8b is essential for CoQ10 biosynthesis, and its proper function is crucial for maintaining normal kidney function and other physiological processes. Studies on Coq8b, especially those related to its role in kidney-associated diseases, have provided valuable insights into the potential treatment and prognosis of these disorders.