Hydroxysteroid dehydrogenase-like protein 2

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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.

The metabolic abnormalities found associated with high blood glucocorticoid levels (. rare Cushing's syndrome) include insulin-resistance, visceral obesity, hypertension, dyslipidaemia and an increased risk of cardiovascular diseases. The same constellation of abnormalities is found in the highly prevalent idiopathic obesity/insulin-resistance (metabolic)-syndrome. It is now apparent that tissue-specific changes in cortisol metabolism explain these parallels rather than altered blood cortisol levels. Primary among these changes is increased intracellular glucocorticoid reactivation, catalysed by the enzyme 11β-hydroxysteroid dehydrogenase type (HSD)-1 in obese adipose tissue. Liver, skeletal muscle, endocrine pancreas, blood vessels and leukocytes express 11β-HSD1 and their potential role in metabolic disease is discussed. The weight of evidence, much of it gained from animal models, suggests that therapeutic inhibition of 11β-HSD1 will be beneficial in most cellular contexts, with clinical trials supportive of this concept.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

This entry describes 2 <p> This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p> <a href='/help/alternative_products' target='_top'> More...</a> </p> isoforms i produced by alternative splicing . Align Add to basket Added to basket

Hydroxysteroid dehydrogenase-like protein 2

hydroxysteroid dehydrogenase-like protein 2

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

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