ATA: mutation in X-linked gene tied to central hypothyroidism
September 25, 2012 in Genetics
Mutations in the X-linked immunoglobulin superfamily member 1 gene, which encodes a pituitary-enriched plasma membrane glycoprotein, may play a role in central hypothyroidism, testicular enlargement, and variable prolactin deficiency, according to a study presented at the annual meeting of the American Thyroid Association, held from Sept. 19 to 23 in Montreal.
(HealthDay)—Mutations in the X-linked immunoglobulin superfamily member 1 (IGSF1) gene, which encodes a pituitary-enriched plasma membrane glycoprotein, may play a role in central hypothyroidism, testicular enlargement, and variable prolactin deficiency, according to a study presented at the annual meeting of the American Thyroid Association (ATA), held from Sept. 19 to 23 in Montreal.
Noting that specific mutations in the thyrotropin-releasing hormone receptor or thyroid-stimulating hormone (TSH)b subunit genes are the only known causes of isolated TSH deficiency, which can cause central hypothyroidism, Nadia Schoenmakers, Ph.D., from the University of Cambridge in the United Kingdom, and colleagues used whole exome and candidate gene sequencing in 10 unrelated families with males exhibiting isolated TSH deficiency, testicular enlargement, and variably low serum prolactin levels.
In affected males, the researchers identified nine mutations in the IGSF1 gene. Disease-associated mutations blocked IGSF1 trafficking from the endoplasmic reticulum to the membrane, indicative of loss-of-function. Adult male IGSF1 null mice exhibited similar features of the human disorder, including decreased pituitary TSH content and circulating thyroxine levels, in addition to increased body weight and fat mass.
"IGSF1 involvement in central hypothyroidism is an important discovery because it creates inroads into our understanding of this rare syndrome, as well as new avenues by which it might be possible one day to control thyroid and testicular function," Douglas Forrest, Ph.D., program co-chair of the annual ATA meeting, said in a statement.
More information: Abstract No. Oral 1
More Information
Copyright © 2012 HealthDay. All rights reserved.
-
Mild increases in thyroid-stimulating hormone not harmful in the elderly
Sep 13, 2012 |
not rated yet |
0
-
Hashimoto's thyroiditis can affect quality of life
Feb 25, 2011 |
not rated yet |
0
-
Soy linked to exacerbated congenital hypothyroidism
Aug 20, 2012 |
not rated yet |
0
-
BMC conducts high rates of thyroid testing in pregnant women, study finds
Jun 30, 2011 |
not rated yet |
0
-
Pituitary hormone TSH found to directly influence bone growth
Sep 13, 2011 |
not rated yet |
0
-
Motion perception revisited: High Phi effect challenges established motion perception assumptions
Apr 23, 2013 |
3 / 5 (2) |
2
-
Anything you can do I can do better: Neuromolecular foundations of the superiority illusion (Update)
Apr 02, 2013 |
4.5 / 5 (11) |
5
-
The visual system as economist: Neural resource allocation in visual adaptation
Mar 30, 2013 |
5 / 5 (2) |
9
-
Separate lives: Neuronal and organismal lifespans decoupled
Mar 27, 2013 |
4.9 / 5 (8) |
0
-
Sizing things up: The evolutionary neurobiology of scale invariance
Feb 28, 2013 |
4.8 / 5 (10) |
14
-
Classical and Quantum Mechanics via Lie algebras
Apr 15, 2011
- More from Physics Forums - Independent Research
More news stories
Researchers identify new circadian clock component
Northwestern University scientists have shown a gene involved in neurodegenerative disease also plays a critical role in the proper function of the circadian clock.
Genetics
May 16, 2013 |
3 / 5 (1) |
1
|
Returning genetic incidental findings without patient consent violates basic rights, experts say
Informed consent is the backbone of patient care. Genetic testing has long required patient consent and patients have had a "right not to know" the results. However, as 21st century medicine now begins to use the tools of ...
Genetics
May 16, 2013 |
5 / 5 (1) |
3
|
Ethicists provide framework supporting new recommendations on reporting incidental findings in gene sequencing
In a paper published in Science Express, a group of experts led by bioethicists in the Center for Medical Ethics and Health Policy at Baylor College of Medicine provide a framework for the new American College of Medical Geneti ...
Genetics
May 16, 2013 |
not rated yet |
0
Experts urge caution over use of new genetic sequencing techniques
The use of genome-wide analysis (GWA), where the entirety of an individual's DNA is examined to look for the genomic mutations or variants which can cause health problems is a massively useful technology for diagnosing disease. ...
Genetics
May 16, 2013 |
not rated yet |
0
Collecting DNA for human rights: How to help while safeguarding privacy
DNA databases might help identify victims of crime and human trafficking, but how do we safeguard the personal privacy of innocent victims and family members? A new report online May 15 in the Cell Press journal Trends in ...
Genetics
May 15, 2013 |
not rated yet |
0
New study finds blind people have the potential to use their 'inner bat' to locate objects
New research from the University of Southampton has shown that blind and visually impaired people have the potential to use echolocation, similar to that used by bats and dolphins, to determine the location of an object.
Researchers find far-reaching, microvascular damage in uninjured side of brain after stroke
While the effects of acute stroke have been widely studied, brain damage during the subacute phase of stroke has been a neglected area of research. Now, a new study by the University of South Florida reports that within a ...
Breakup of physician, drug company relationship could improve health care, cut cost
A new report suggests that improved health care and significant reductions in drug costs might be attained by breaking up the age-old relationship between physicians and drug company representatives who promote the newest, ...
Food laboratory accuracy remains a concern
Food microbiology laboratories continue to submit false negative results and false positive results on a routine basis. A retrospective study of nearly 40,000 proficiency test results over the past 14 years, presented today ...
Study supports 'aggressive' treatment for posterior fossa hematoma in newborns
Posterior fossa subdural hematoma (PFSDH) is a serious and rare condition in newborns, generally occurring after difficult deliveries. But with appropriate treatment, there's an excellent chance of good long-term outcomes ...
Which women should be screened for high cholesterol?
National guidelines recommend that at-risk women be screened for elevated cholesterol levels to reduce their chances of developing cardiovascular disease. But who is 'at risk?' The results of a study by investigators ...
