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6

The following is of course, in case the diagnosis is confirmed. SLO is an autosomal recessive pathology, which means both parents are carrier of one mutated allele of the DHCR7. They do not express the pathology because the other allele isn't mutated and this allows for a normal function of the DHCR7 gene. This also means there is nothing that can be done ...


6

Smith-Lemli-Opitz syndrome is a genetic condition that only occurs if both parents are carriers of the mutation. For each chromosome that isn't a sex chromosome, we get one copy from each parent, so we have two copies of every gene. The "autosomal recessive pattern" means that the condition is not linked to the sex chromosomes (autosomal) and only occurs in ...


5

Do some proteins survive human digestion? Yes. Prions are misfolded proteins with abnormal tertiary or quaternary structures. That grants them resistance (to some extent, at least) to proteases (1). Also, researchers believe that prions are able to replicate (2), by changing the structure of other proteins. Besides, It has been shown that small ...


3

As I argue in my answer to this question, there seems to be a threshold in terms of the amount of alcohol likely to cause hepatocellular necrosis based on the production of acetaldehyde. However, alcohol causes damage to other cells in the body such as in the brain and throat. Since your example is of hard liquor, there would be damage to the mouth and ...


2

This excellent description of the pathophysiology of digestion answers your question by explaining in more detail how trypsinogen gets from the pancreas to the intestinal lumen. "Several proteases are synthesized in the pancreas and secreted into the lumen of the small intestine. The two major pancreatic proteases are trypsin and chymotrypsin, which ...


2

The answer seems somewhat complex for 229E. It seemingly evolved in us for better utilization of TMPRSS2, as Shirato et al. (2016) report: Human coronavirus 229E (HCoV-229E), a causative agent of the common cold, enters host cells via two distinct pathways: one is mediated by cell surface proteases, particularly transmembrane protease serine 2 (TMPRSS2), ...


2

In short: There are digestive enzymes available as supplements (amylase, cellulase, alpha-glycosidase) that can help digest starch and certain types of fiber in wheat. There is no convincing evidence to say that taking such enzymes helps relieve symptoms in irritable bowel syndrome. Irritable bowel syndrome (IBS) is not caused by lack of digestive enzymes ...


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