The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome

Article Abstract:

An abnormality in part of the gene that codes for the enzyme UDP-glucuronosyltransferase 1 may be one of the causes of Gilbert's syndrome. Gilbert's syndrome causes people to have high levels of free bilirubin which is normally processed by UDP-glucuronosyltransferase 1 and then excreted, but is generally harmless in adults. Researchers analyzed the gene for this enzyme in 10 people with Gilbert's syndrome, 55 normal people, and 16 members of a family with a history of Crigler-Najjar syndrome type II, which causes a deficiency of the enzyme. The 10 people with Gilbert's syndrome had the same mutation in the promotor of the UDP-glucuronosyltransferase 1 gene. The mutation inhibited transcription. Three of the 55 normal people were homozygous for the promotor mutation and had elevated bilirubin levels. Six relatives of people with Crigler-Najjar syndrome were heterozygous for the promotor mutation and they had high bilirubin levels. These results suggest that the promotor mutation is a necessary but not exclusive cause of Gilbert's syndrome.

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Campylobacter jejuni infection and Guillain-Barre syndrome

Article Abstract:

Guillain-Barre syndrome is often preceded by Campylobacter (C.) jejuni infection, which increases the risk of nerve deterioration, slow recovery, and lasting disability. Guillain-Barre syndrome involves inflammation of nerves, resulting in sudden paralysis. Researchers studied the occurrence of C. jejuni infections in 103 patients with Guillain-Barre syndrome or Miller Fisher syndrome, a less severe nerve disorder. They also studied 98 people from the households of the patients and 93 people with neither syndrome from the same hospital. C. jejuni infections were present in 26% of the patients, 2% of the household controls, and 1% of the hospital controls. Of the patients with C. jejuni infection, 70% had diarrhea during the 12 weeks before developing Guillain-Barre syndrome. Among the patients with neurologic syndromes, those with C. jejuni infection took longer to return to walking, had greater disability a year later, and greater deterioration of the axons of their nerve cells.

Complications and side effects, Physiological aspects, Guillain-Barre syndrome, Campylobacter infections, Campylobacteriosis

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Gilbert's syndrome - a legitimate genetic anomaly?

Article Abstract:

A 1995 study supports the belief that Gilbert's syndrome results from an inherited genetic abnormality, but more research is necessary to further explain the genetic causes of the syndrome. Gilbert's syndrome causes people to have high levels of free bilirubin which is normally processed by UDP-glucuronosyltransferase 1 and then excreted. The 1995 study found that 10 people with Gilbert's syndrome had a mutation in the promotor region of the gene that codes for UDP-glucuronosyltransferase 1. Because some of the normal control subjects also had the mutation, the researchers concluded that the mutation was a necessary but not sufficient cause of the syndrome. A problem with the study is that the researchers analyzed bilirubin levels rather than directly looking at expression of UDP-glucuronosyltransferase 1. Further research is required to verify if the mutation reduced expression of the enzyme and what other factors might contribute to the syndrome.

Editorial

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