TSH receptor protein is selectively expressed in normal human extraocular muscle.

Thyroid-associated ophthalmopathy is a common manifestation of Graves' disease. Its pathophysiology is not well understood but an antigen shared between the thyroid and orbit is thought to play a role. Using immunohistochemistry, we have demonstrated the presence of the autoantigenic target of Graves' disease, the thyroid-stimulating hormone receptor, in normal human extraocular muscle.

The expression of soluble, full-length, recombinant human TSH receptor in a prokaryotic system.

For the first time soluble, full-length, recombinant, human thyroid-stimulating hormone (TSH) receptor (TSHR) has been expressed in a prokaryotic system. The full-length TSHR cDNA, obtained from normal human thyroid, was cloned into a pQE-9 vector, sequenced, and confirmed to be identical to the published sequence, to be full length, and to be in frame. Expression of the receptor was as a fusion protein with a hexahistidine tail at the amino terminal, in an Escherichia coli expression system.

Extrathyroidal manifestations of Graves' disease: the thyrotropin receptor is expressed in extraocular, but not cardiac, muscle tissues.

The existence of an autoantigen common to Graves' disease and its associated extrathyroidal manifestations has been proposed. As the TSH receptor (TSHR) is the primary target for autoimmunity against the thyroid in Graves' disease, much effort has gone into investigating the role of TSHR messenger ribonucleic acid (mRNA) transcripts in extrathyroidal tissue, particularly in the orbit. A high stringency RT-PCR technique had previously been employed by our laboratory to demonstrate the presence of full-length and splice variant TSHR mRNA in extraocular muscle (EOM).

APOE epsilon4 genotype is associated with an earlier onset of chronic temporal lobe epilepsy.

The authors analyzed the association between APOE epsilon4 genotype and clinical and MRI findings in 43 refractory temporal lobe epilepsy patients. The distribution of the alleles were normal. Ten patients (23%) had an APOE epsilon 4 allele and had an earlier onset of habitual seizures (with epsilon4 5 +/- 5 years; without epsilon4 15 +/- 10 years).