Monthly Archives: January 2015

Research probes molecular basis of rare genetic disorder

Posted: January 22, 2015 at 11:48 pm

An international group co-led by University of Alabama at Birmingham researcher Mary MacDougall, Ph.D., has unraveled the molecular basis for the rare, inherited genetic disorder, Singleton-Merten Syndrome (SMS). Individuals with SMS develop extreme, life-threatening calcification of the aorta and heart valves, early-onset periodontitis and root resorption of the teeth, decreases in bone density, and loss of bone tissue at the tips of fingers and toes.

The cause of SMS is a missense mutation that changes a single amino acid in the protein MDA5 from arginine to glutamine, MacDougall and colleagues are reporting today (Jan. 22) in the online version of The American Journal of Human Genetics. That change in MDA5 -- which detects viral double-stranded RNA as part of the innate immunity system -- causes increased induction of interferon beta. Thus SMS is recognized as an innate autoimmune disease for the first time.

"The autoimmunity finding was startling," said MacDougall, associate dean for research, James R. Rosen Chair of Dental Research, and professor in the Department of Oral and Maxillofacial Surgery at the UAB School of Dentistry, and director of UAB's Global Center for Craniofacial, Oral and Dental Disorders. She and Frank Rutsch, M.D., Department of General Pediatrics, Muenster University Children's Hospital, Germany, are co-first authors of the paper, "A Specific IFIH1 Gain-of-function Mutation Causes Singleton-Merten Syndrome.

Because of the unusual dental problems in SMS patients, Rutsch had contacted MacDougall 10 years ago to probe the molecular mechanisms of the syndrome. MacDougall is an internationally respected research leader in craniofacial developmental biology and dental genetics, particularly the molecular basis and mechanisms associated with human dental genetic disorders that alter tooth number, formation and hard tissue structure. Such investigations of differentiation during tooth and bone formation have broad applications across medical research.

SMS is an autosomal-dominant disorder, meaning the mutation is not carried on the sex chromosomes, and a single copy of the mutation in the gene IFIH1 that encodes MDA5 can cause disease. Rutsch identified three SMS-affected families, and researchers in Cologne, Germany performed whole-exome DNA sequencing and targeted Sanger sequencing to identify the mutation. The same mutation was found in 10 different patients.

MacDougall's group at UAB analyzed the dental features of patients and created cell lines from SMS individuals and controls. Several of the dental pulp cell lines came from an extracted, forming third-molar that was shipped from Germany to Alabama by FedEx.

Functional studies by the UAB group found that: MDA5 -- as measured by immunohistochemistry of human heart, skin and cartilage tissue, or demineralized developing mouse teeth -- was present in all target tissues that are altered in SMS. Presence of the SMS- IFIH1 mutant gene increased interferon beta gene expression by 20-fold, and correcting the single mutation of the SMS-IFIH1 back to normal reduced expression to control levels. The SMS- IFIH1 mutant gene had a greater response, as measured by interferon beta induction, when challenged with double-stranded RNA, as compared with the normal gene. Whole blood of SMS individuals and the cell lines developed from the SMS tooth had higher expression of interferon signature genes, compared with control individuals and cells.

Thus, the altered gene is a gain-of-function mutation. Recently, IFIH1 has been linked to several autoimmune disorders, including Aicardi-Goutieres syndrome, though those individuals show brain and developmental defects.

The UAB research team included Changming Lu and Olga Mamaeva, research associates for the Institute of Oral Health Research in the UAB School of Dentistry, and Heidi Erlandsen, a former dental school instructor.

MacDougall is continuing SMS gene research at UAB, including probing the impact of its dysregulation of 30 genes that are involved in tooth formation and dentin mineralization; using it as a paradigm for patients with other diseases, such as periodontitis and aggressive periodontitis; screening glaucoma patients for the mutation, since early-onset glaucoma is one phenotype seen in some SMS individuals; and looking for altered microbiomes and oral biomes in SMS individuals.

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Research probes molecular basis of rare genetic disorder

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AW: Double DNA 100+ NL Ist Talent wichtig? – Video

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AW: Double DNA 100+ NL Ist Talent wichtig? - Video

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AW: MK14 "Double DNA Bomb" – Erikoisia WiFi Nimi – Video

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DNA Bomb With Every Gun Ep. 14 (TAC-19) *NO ATTACHMENTS* – Call of Duty: AW – Video

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*LIVE Triple DNA*(Solo) ASM1 w/ @KingBio_ – Video

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*LIVE Triple DNA*(Solo) ASM1 w/ @KingBio_ - Video

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Geburtstagsspecial *-*/ Birthdayspecial ~ CoD Advanced Warfare DNA Gameplay #2 ~ 68:5 – Video

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Geburtstagsspecial *-*/ Birthdayspecial ~ CoD Advanced Warfare DNA Gameplay #2 ~ 68:5 - Video

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DNA: N Srinivasan barred from contesting BCCI elections – Video

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DNA: N Srinivasan barred from contesting BCCI elections
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DNA ties Texas inmate to two Fayetteville rape cases

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DNA testing on a man who has been linked to two violent crimes in Fayetteville has now tied him to additional rapes, court documents said.

The DNA belongs to 46-year-old William Everette Razor III, according to search warrant affidavits filed in the Clerk of Court's Office.

Razor is serving a 13-year prison term in Texas.

Fayetteville police were seeking search warrants to gain access to the victims' medical records.

The affidavits say Razor's DNA matches that found in December 2009 after a woman reported she was beaten and raped at the Red Carpet Inn Motel at 442 S. Eastern Blvd.

The motel closed in 2013 and was scheduled to be razed, but a fire destroyed the building later that year.

Razor's DNA also matches samples of material taken in August 2006 after a woman reported she was beaten and raped at the Economy Inn at 525 Eastern Blvd.

Razor's DNA was entered into a national database after his arrest in Texas.

In January 2013, Fayetteville police were notified that Razor's DNA matched samples that were found in 2007 after 39-year-old April Kemp was found dead behind the Red Carpet Inn Motel.

An autopsy showed Kemp died from blunt force trauma and had injuries indicating she struggled with her attacker. Investigators followed a blood trail to one of the rooms where they found signs of a struggle that moved outside.

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DNA ties Texas inmate to two Fayetteville rape cases

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Seattle police to do DNA testing on all rape kits

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Seattle police will begin DNA testing on all sexual-assault evidence kits, including 1,276 collected over the past 10 years that were shelved and never tested, the department announced Thursday.

Police said the change in policy came after new police Chief Kathleen OToole and the new supervisor of the departments Special Victims Unit, Capt. Deanna Nollette, had discussions with the King County Prosecutors Office, Harborview Medical Center and victim-advocacy groups.

We will test all sexual-assault kits moving forward and begin addressing untested kits, Nollette said. Its a great enhancement in our response to victims and our investigative abilities.

Nollette said the departments previous protocols which took into account whether there was a cooperative victim and whether consensual sexual contact was contested made sense at the time they were created. However, those protocols are no longer considered to be among the best practices.

We took a new look at it and saw there was room for improvement, Nollette said.

The change comes as the issue of untested, stored so-called rape kits is being discussed nationwide.

Last year, Congress officially recognized the backlog of untested rape kits as a national problem in passing the Sexual Assault Forensic Evidence Reporting Act, or SAFER, which seeks to provide data on the number of unsolved rape cases awaiting testing and establish better standards for the tracking, storage and use of DNA evidence in sexual-assault cases.

The federal government is also providing funding to help cover the costs for testing the kits, which usually contain swabs, evidence envelopes and information sheets detailing the examination.

In November, Manhattan District Attorney Cyrus R. Vance Jr. pledged as much as $35 million to help eliminate the backlog of rape kits that has long troubled authorities, victims and lawmakers.

Sexual-assault victims generally undergo a forensic examination in which potential evidence such as blood, saliva or semen is collected and preserved in what is commonly called a rape kit.

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Seattle police to do DNA testing on all rape kits

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