Researchers link facial structure to kidney disease

April 24, 2013
Researchers link facial structure to kidney disease

(Medical Xpress)—Researchers at King's College London's Dental Institute have shown that people with a certain kind of kidney disease have characteristic facial features that may reflect the genetic mutation they carry.

A team led by Professor Sharpe—an expert in craniofacial development and at the Institute—has published a paper detailing this phenomenon in the journal Human Molecular Genetics.

Autosomal Dominant (ADPKD) is the most common genetic . In the UK, it accounts for around 1 in 10 people on dialysis and 1 in 8 of those with a kidney transplant. Among ADPKD families, about 64-85 per cent of families have mutations in the PKD1 gene and about 15-36 per cent have mutations in the related, PKD2 gene.

Mice with mutations in these genes show similar kidney disease to humans. In this recent collaborative study with groups at University College London and the University of Cambridge, Professor Sharpe and his team identified specific facial and dental abnormalities in PKD2 mutant mice. These features develop after birth and correlate with the function of PKD2 as a mechanoreceptor, and thus influence the structure of the face by influencing jaw strength and other features.

To the naked eye, patients with ADPKD are not known to have any characteristic facial or dental features. To test whether there was any relationship in humans with these mutations, 3D facial shape analysis—using techniques developed by Professor Peter Hammond's lab at UCL's Institute of Child Health—was carried out on a small group of patients (11 female, 8 male, mean age 48 years). None of the patients had yet reached the stage where dialysis or a was necessary. 'Surprisingly this analysis revealed specific characteristics of ADPKD patient faces, some of which correlated with those of the ,' said Professor Sharpe, who is also affiliated to the MRC Centre for Transplantation at King's. Patients with ADPKD had a slight vertical lengthening of their faces, slightly longer noses, and less symmetrical faces. 'Our results suggest that PKD2 mutations are thus not only responsible for but also craniofacial anomalies in mice and characteristic human features,' he adds.

The complexity of the human face means that a very wide variety of molecular processes are involved in its development. Defects in such processes that are manifested as a specific disease such as ADPKD are also likely to have effects on facial development. Such effects may not always be obvious but the use of 3D shape analysis can reveal subtle characteristics that can correlate with disease phenotypes. 'To what extent analysis of facial features can be used to diagnose disease is an intriguing question that requires further investigation,' concluded Professor Sharpe.

Explore further: Gene mutations predict early, severe form of kidney disease

Related Stories

Gene mutations predict early, severe form of kidney disease

October 24, 2011
The most common kidney disease passed down through families, autosomal dominant polycystic kidney disease (ADPKD) affects one in 400 to 1,000 individuals and is characterized by cysts on the kidneys. The condition slowly ...

Single gene controls development of many forms of polycystic disease

June 19, 2011
A single gene is central in the development of several forms of polycystic kidney and liver disease, Yale School of Medicine researchers report in the June 19 issue of Nature Genetics.

Scientists make strides toward drug therapy for inherited kidney disease

October 27, 2011
Scientists at UC Santa Barbara have discovered that patients with an inherited kidney disease may be helped by a drug that is currently available for other uses. The findings are published in this week's issue of the Proceedings ...

New drug target for kidney disease discovered

April 26, 2011
Two discoveries at UC Santa Barbara point to potential new drug therapies for patients with kidney disease. The findings are published in this week's issue of the Proceedings of the National Academy of Sciences.

Recommended for you

A large-scale 'germ trap' solution for hospitals

July 26, 2017
When an infectious airborne illness strikes, some hospitals use negative pressure rooms to isolate and treat patients. These rooms use ventilation controls to keep germ-filled air contained rather than letting it circulate ...

Male hepatitis B patients suffer worse liver ailments, regardless of lifestyle

July 25, 2017
Why men with hepatitis B remain more than twice as likely to develop severe liver disease than women remains a mystery, even after a study led by a recent Drexel University graduate took lifestyle choices and environments ...

Mind-body therapies immediately reduce unmanageable pain in hospital patients

July 25, 2017
Mindfulness training and hypnotic suggestion significantly reduced acute pain experienced by hospital patients, according to a new study published in the Journal of General Internal Medicine.

Researchers report new system to study chronic hepatitis B

July 25, 2017
Scientists from Princeton University's Department of Molecular Biology have successfully tested a cell-culture system that will allow researchers to perform laboratory-based studies of long-term hepatitis B virus (HBV) infections. ...

Research examines lung cell turnover as risk factor and target for treatment of influenza pneumonia

July 24, 2017
Influenza is a recurring global health threat that, according to the World Health Organization, is responsible for as many as 500,000 deaths every year, most due to influenza pneumonia, or viral pneumonia. Infection with ...

Scientists propose novel therapy to lessen risk of obesity-linked disease

July 24, 2017
With obesity related illnesses a global pandemic, researchers propose in the Journal of Clinical Investigation using a blood thinner to target molecular drivers of chronic metabolic inflammation in people eating high-fat ...

1 comment

Adjust slider to filter visible comments by rank

Display comments: newest first

rsklyar
1 / 5 (1) Apr 29, 2013
How British swindlers are stealing in their cheating journal Nature Materials at https://connect.i...sr/blogs (Impertinent cheating ... & A robbery ...)

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.