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Pregnancy Timeline by SemestersFemale Reproductive SystemFertilizationThe Appearance of SomitesFirst TrimesterSecond TrimesterThird TrimesterFetal liver is producing blood cellsHead may position into pelvisBrain convolutions beginFull TermWhite fat begins to be madeWhite fat begins to be madeHead may position into pelvisImmune system beginningImmune system beginningPeriod of rapid brain growthBrain convolutions beginLungs begin to produce surfactantSensory brain waves begin to activateSensory brain waves begin to activateInner Ear Bones HardenBone marrow starts making blood cellsBone marrow starts making blood cellsBrown fat surrounds lymphatic systemFetal sexual organs visibleFinger and toe prints appearFinger and toe prints appearHeartbeat can be detectedHeartbeat can be detectedBasic Brain Structure in PlaceThe Appearance of SomitesFirst Detectable Brain WavesA Four Chambered HeartBeginning Cerebral HemispheresEnd of Embryonic PeriodEnd of Embryonic PeriodFirst Thin Layer of Skin AppearsThird TrimesterDevelopmental Timeline
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October 10, 2012--------News Archive Return to: News Alerts


Mitochondria are found within the cell wall and are sometimes described as
"cellular power plants" because they generate most of the cell's supply of
adenosine triphosphate (ATP), used as a source of chemical energy.

WHO Child Growth Charts

       

Discovering the Gene Behind Rare Disorders

Using a new technique that has revolutionized genetic studies, scientists determined that mutations in the RMND1 gene were responsible for severe neurodegenerative disorders, in two infants, ultimately leading to early death

Scientists at the Montreal Neurological Institute and Hospital – The Neuro, McGill University working with a team at Oxford University have uncovered the genetic defect underlying a group of rare genetic disorders.

Although the teams' investigations dealt with an infant, their discovery also has implications for understanding the causes of later-onset neurological diseases.


The RMND1 gene encodes a protein that is
an important tot of the machinery in mitochondria
which generates the chemical energy all cells
need to function.

Mutations in genes affecting mitochondrial
function are common causes of neurological and neuromuscular disorders in adults and children.

It is estimated that one newborn baby out of 5000
is at risk for developing one of these disorders.
Mortality among such cases is very high.


"Mitochondria are becoming a focus of research because it's clear they're involved in neurodegenerative disorders in a fairly big way. For instance, we're finding that dysfunctional mitochondria may be at the heart of adult-onset disorders like Parkinson's and Alzheimer's disease," says Dr. Eric Shoubridge, an internationally recognized specialist on mitochondrial diseases at The Neuro. The research is published in The American Journal of Human Genetics.

Discovery of the mutations in the RMND1 gene involved using whole-exome sequencing at the McGill University and Genome Québec Innovation Centre. This technique allows all of the genes in the body that code for proteins to be sequenced and analyzed in a single experiment.


At a cost of about $1000, whole-exome sequencing
is much more economical than previous techniques
where lists of candidate genes had to be screened
in the search for mutations.

The technique is poised to change genetic diagnosis,
making testing more efficient and available.


Dr. Shoubridge: "Parents who have had a child with a mitochondrial disorder and who are hesitating to have another child now have the possibility to know the cause of the disease. With genetic information, they have reproductive options like in vitro fertilization."

The discovery of the RMND1 gene's role sheds light on disorders of mitochondrial energy metabolism, but therapies to alleviate or cure such disorders remain elusive.

Dr. Shoubridge is hopeful that the discovery will encourage pharmaceutical interest. "Drug companies are starting to be interested in rare diseases and metabolic disorders like this. They're picking some genes as potential drug candidates."

The Neuro is an academic medical centre dedicated to neuroscience. As a research and teaching institute of McGill University, The Neuro is at the centre of the neuroscience mission of the McGill University Health Centre. The eminent neurosurgeon Wilder Penfield founded The Neuro in 1934. Since then, The Neuro has achieved international renown for its integration of research, outstanding patient care and advanced training. The Neuro has a world-class staff in cellular and molecular neuroscience, brain imaging, cognitive neuroscience, as well as in the study and treatment of epilepsy, multiple sclerosis and neuromuscular disorders. For more information, please visit www.theneuro.com.

Original article: http://www.eurekalert.org/pub_releases/2012-10/mu-sdg100912.php