Navigation Links
Gene Found for Rare Disorder May Reveal New Pathway in Mental Retardation

Studying mutations that give rise to a rare genetic disease, genetics researchers have identified a novel biological pathway //that may have a broader role during human development, potentially in cases of mental retardation and autism.

An international team of researchers identified two genes that contribute to Cornelia deLange syndrome (CdLS), a multisystem genetic disease that affects an estimated one in 10,000 children. The disease varies from milder to more severe forms, but classically includes mental retardation, impaired growth, heart defects, feeding problems, deformed upper limbs and distinctive facial features.

In the current study, mutations in two genes of interest cause mental retardation, but with less pronounced facial features and none of the limb defects, such as missing hands or fingers, that are hallmarks of classical cases of CdLS. The genes play important roles in early development, and when mutated, cause brain abnormalities.

“Our work suggests that a subset of patients with mental retardation may have mutations in these genes, without showing the broader range of symptoms identified in diseases such as Cornelia deLange syndrome,” said study leader Ian D. Krantz, M.D., a specialist in pediatric genetics at The Children’s Hospital of Philadelphia. Dr. Krantz and his co-author, Laird S. Jackson, M.D., of Drexel University College of Medicine, led the study team that announced the discovery of NIPBL, the first gene known to cause CdLS, in 2004.

The current study appeared online Jan. 17 in the American Journal of Human Genetics, in advance of print publication in March 2007.

In contrast to the NIPBL gene, in which mutations cause roughly half of known CdLS cases, the researchers found that mutations in the new genes, SMC3 and SMC1A, cause only about 5 percent of CdLS cases. All three genes produce proteins called cohesin proteins. Cohesin proteins have long been known to play an importan t role in many species in controlling the integrity of chromosome pairs during cell division.

Recent research has unexpectedly showed that mutated genes along the cohesin pathway also cause specific abnormalities during human development. “In these cohesin complex proteins, the strongest effect seems to be in brain development,” said Dr. Krantz.

Drs. Krantz and Jackson together maintain the world’s largest database of patients with CdLS. The current study screened 115 patients who did not have mutations in the NIPBL gene, but who were judged to have CdLS or a milder variant of the disease, based on evaluations by clinical geneticists.

Of the 115 patients, 11 had mutations in the SMC1A or SMC3 gene. All had some degree of mental retardation, but none had limb abnormalities. Five of the 11 patients had normal height, whereas only 5 percent of patients with classic CdLS achieve normal height. The patients with the SMCIA and SMC3 mutations had milder versions of the distinctive facial features found in classical CdLS, such as thin eyebrows that join together, long eyelashes, thin lips and excessive body hair.

“In many of these patients, an experienced clinician might recognize their more subtle facial features as suggestive of CdLS, but for the most part, they would only come to clinical attention for having mild to moderate mental retardation,” said Matthew A. Deardorff, M.D., the first author of the study and a fellow in genetics at Children’s Hospital. “This study suggests there may be other, undiscovered mutations along the cohesin pathway among patients thought to have isolated mental retardation.”

“This discovery will improve the diagnosis of Cornelia deLange syndrome,” added Dr. Krantz, “and also opens an avenue for investigating genetic mechanisms in broader populations of patients with abnormal brain development, in mental retardation and possibly autism as well.”

Source-Nwswise
SRI
'"/>




Related medicine news :

1. Fluoride Found Effective in Osteoporosis
2. Implantable Contact Lens Found Safe and Effective
3. Cancer hazard Found With Animal-Based Nutrients
4. Processed Meat, Diabetes connection Found
5. Night Time Aspirin Regimen Found to Reduce Blood Pressure
6. Hydrotherapy Found to be Effective for Patients with Osteoarthritis
7. Hydrotherapy Found to be Effective for Patients with Osteoarthritis
8. Preventive Therapies Found to be More Effective in Managing Migraines
9. Common Cold Found to Fight Cancer
10. Circumcision Found To Prevent HIV Spread
11. Drug Found To Reduce The Transmission Of Herpes
Post Your Comments:
*Name:
*Comment:
*Email:


(Date:4/29/2016)... , ... April 29, 2016 , ... ... of a growth round of funding led by Eastside Partners, with participation from ... company’s rapidly growing customer base and accelerate its technology and product roadmap. ...
(Date:4/29/2016)... , ... April 29, 2016 , ... ... print media enterprise focused entirely on patients with cancer, today announced that Lynne ... chosen as the 2016 CURE® Extraordinary Healer® for Oncology Nursing , which ...
(Date:4/29/2016)... , ... April 29, 2016 , ... ... to promote their animal line of probiotics, Petbiotics ™, as they fondly ... turnout of animal rescue groups networking for their non-profit organizations. Animal rescues across ...
(Date:4/29/2016)... ... 29, 2016 , ... Coalition Duchenne, a Newport Beach, California ... Duchenne research, participated in the April 25 U.S. Food and Drug Administration advisory ... The meeting at the Marriott Conference Center in Hyattsville, Maryland was attended by ...
(Date:4/29/2016)... , ... April 29, 2016 , ... ... data for 2014. Each year, reproductive endocrinologists are required to report in ... main organization of professionals dedicated to the practice of assisted reproductive technologies in ...
Breaking Medicine News(10 mins):
(Date:4/28/2016)... April 28, 2016 Treato ... on healthcare, announced today that it has been named ... Cool Vendor in Life Sciences, 2016, Stephen ...  The report focuses on life-science- oriented analytics, algorithms and ... patients and doctors, confirm medication ingestion, and analyze unstructured ...
(Date:4/28/2016)... , April 28, 2016 Oramed Pharmaceuticals ... clinical-stage pharmaceutical company focused on the development of oral drug ... the upcoming PIONEERS 2016 conference, presented by Joseph Gunnar ... in New York . Nadav Kidron ... the conference. Presentation Details:   ...
(Date:4/28/2016)... Florida , April 28, 2016 ... the development of innovative peptide and gene-based immunotherapeutics and vaccines ... it will be presenting at the 3rd Annual Growth ... - 5 th , 2016 at Caesars Palace in Las Vegas, ... 8.00 am on Wednesday, May 4 th by Dr. ...
Breaking Medicine Technology: