In a Caucasian boy with HSD10MD, Falk et al. (2016) identified a hemizygous missense mutation in the HSD17B10 gene (K212E; ). No parental DNA or DNA from reportedly affected maternal uncles was available for study. In vitro functional expression assays showed that the mutation resulted in decreased dehydrogenase activity. However, more significantly, the mutation disrupted TRMT10C ( 615423 )-associated methyltransferase activity and destabilized the RNase P holoenzyme, resulting in impaired mitochondrial tRNA processing and maturation and impaired mitochondrial protein synthesis. The findings suggested that the major pathogenic mechanism resulting from HSD17B10 mutations is the adverse effect on mitochondrial function.
Adrenal gland function, as well as the synthesis of cortisol, is dependent on an adequate supply of various vitamins. Vitamin C levels are among the highest in the adrenal glands compared with other organs. Vitamin C plays a major role in neurotransmitter production and supports general health of the adrenals. Under stressful conditions, vitamin C and B complex vitamins are readily used and excreted from the body. Within the B vitamin family, pantothenic acid breaks down into coenzyme A, which is essential for the production of energy from ingested carbohydrates, fats and proteins. In a study evaluating the effects of pantothenic acid and glutathione production, pantothenic acid was found to increase CoA levels in the body, leading to increased energy production. Niacin also plays a vital role in many metabolic functions in the body, including supplying energy to cells and assisting in the production of adrenal hormones.