Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Prenatal molecular diagnosis for tuberous sclerosis complex

03.03.2009
Geneticists from Boston University School of Medicine (BUSM) have reported the world's first series of cases of prenatal diagnosis for women at risk of having a child with tuberous sclerosis complex (TSC).

Earlier, the Center for Human Genetics team published the first molecular prenatal diagnosis of TSC. The current study details the sequencing of the TSC genes (TSC1 and TSC2) analysed in 50 completed pregnancies. These findings appear in the March 2009 issue of the American Journal of Obstetrics and Gynecology.

TSC is a genetic disorder that causes tumors to form in many different organs, primarily the brain, eyes, heart, kidney, skin and lungs. In addition, this condition accounts for mental retardation in about 44 percent of patients. Current estimates place TSC-affected births at one in 6,000. Nearly 1 million people worldwide are known to have TSC, with approximately 50,000 in the United States.

Remarkable advances have occurred in prenatal genetic diagnosis including the resequencing of the 2 tumor-suppressor genes (TSC1 and TSC2) for TSC. DNA studies were performed on amniotic fluid cells and chorionic villi from 50 pregnant women at risk for having a child with TSC. Among the 50 families studied, mutations were precisely identified in 48 tested fetuses. Mutations were determined by gene sequencing and deletion/duplication analysis of the two TSC genes. Insufficient DNA and poor amniotic fluid cells accounted for no diagnosis in two cases.

According to the researchers, sequencing both the TSC1 and TSC2 genes facilitated detection of about 83 percent of mutations. Coupled with multiple ligation-dependent probe amplification assays an overall detection rate of nearly 93 percent was achieved.

"Physicians are advised to be alert to family history of TSC or unexplained mental retardation and to first test a known affected family member and/or preconception testing rather than the anxiety-provoking, last-minute efforts at prenatal testing initiated in the second trimester of pregnancy," said lead author Aubrey Milunsky, MBBCh, DSc, FRCP, FACMG, DCH, Director of the Center for Human Genetics at BUSM, as well as a professor of human genetics, pediatrics, pathology and obstetrics and gynecology at BUSM.

"Given the clinical and molecular complexities of TSC, it would be advisable for all couples at risk to be referred to a clinical geneticist for evaluation and counseling," he added.

Gina DiGravio | EurekAlert!
Further information:
http://www.bmc.org

More articles from Health and Medicine:

nachricht Investigators may unlock mystery of how staph cells dodge the body's immune system
22.09.2017 | Cedars-Sinai Medical Center

nachricht Monitoring the heart's mitochondria to predict cardiac arrest?
21.09.2017 | Boston Children's Hospital

All articles from Health and Medicine >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: The pyrenoid is a carbon-fixing liquid droplet

Plants and algae use the enzyme Rubisco to fix carbon dioxide, removing it from the atmosphere and converting it into biomass. Algae have figured out a way to increase the efficiency of carbon fixation. They gather most of their Rubisco into a ball-shaped microcompartment called the pyrenoid, which they flood with a high local concentration of carbon dioxide. A team of scientists at Princeton University, the Carnegie Institution for Science, Stanford University and the Max Plank Institute of Biochemistry have unravelled the mysteries of how the pyrenoid is assembled. These insights can help to engineer crops that remove more carbon dioxide from the atmosphere while producing more food.

A warming planet

Im Focus: Highly precise wiring in the Cerebral Cortex

Our brains house extremely complex neuronal circuits, whose detailed structures are still largely unknown. This is especially true for the so-called cerebral cortex of mammals, where among other things vision, thoughts or spatial orientation are being computed. Here the rules by which nerve cells are connected to each other are only partly understood. A team of scientists around Moritz Helmstaedter at the Frankfiurt Max Planck Institute for Brain Research and Helene Schmidt (Humboldt University in Berlin) have now discovered a surprisingly precise nerve cell connectivity pattern in the part of the cerebral cortex that is responsible for orienting the individual animal or human in space.

The researchers report online in Nature (Schmidt et al., 2017. Axonal synapse sorting in medial entorhinal cortex, DOI: 10.1038/nature24005) that synapses in...

Im Focus: Tiny lasers from a gallery of whispers

New technique promises tunable laser devices

Whispering gallery mode (WGM) resonators are used to make tiny micro-lasers, sensors, switches, routers and other devices. These tiny structures rely on a...

Im Focus: Ultrafast snapshots of relaxing electrons in solids

Using ultrafast flashes of laser and x-ray radiation, scientists at the Max Planck Institute of Quantum Optics (Garching, Germany) took snapshots of the briefest electron motion inside a solid material to date. The electron motion lasted only 750 billionths of the billionth of a second before it fainted, setting a new record of human capability to capture ultrafast processes inside solids!

When x-rays shine onto solid materials or large molecules, an electron is pushed away from its original place near the nucleus of the atom, leaving a hole...

Im Focus: Quantum Sensors Decipher Magnetic Ordering in a New Semiconducting Material

For the first time, physicists have successfully imaged spiral magnetic ordering in a multiferroic material. These materials are considered highly promising candidates for future data storage media. The researchers were able to prove their findings using unique quantum sensors that were developed at Basel University and that can analyze electromagnetic fields on the nanometer scale. The results – obtained by scientists from the University of Basel’s Department of Physics, the Swiss Nanoscience Institute, the University of Montpellier and several laboratories from University Paris-Saclay – were recently published in the journal Nature.

Multiferroics are materials that simultaneously react to electric and magnetic fields. These two properties are rarely found together, and their combined...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

“Lasers in Composites Symposium” in Aachen – from Science to Application

19.09.2017 | Event News

I-ESA 2018 – Call for Papers

12.09.2017 | Event News

EMBO at Basel Life, a new conference on current and emerging life science research

06.09.2017 | Event News

 
Latest News

Rainbow colors reveal cell history: Uncovering β-cell heterogeneity

22.09.2017 | Life Sciences

Penn first in world to treat patient with new radiation technology

22.09.2017 | Medical Engineering

Calculating quietness

22.09.2017 | Physics and Astronomy

VideoLinks
B2B-VideoLinks
More VideoLinks >>>