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Spina BifidaSpina Bifida
Animal Science 434Animal Science 434Tuesday LabTuesday LabAshley DriverAshley DriverEmily WintherEmily WintherShauna CarterShauna Carter
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Spina Bifida: What is it?Spina Bifida: What is it?
Neural Tube Defect:Neural Tube Defect: When the neural tube fails to properly close When the neural tube fails to properly close
during the 4during the 4thth week embryogenesis. week embryogenesis. One of the most common severely disabling One of the most common severely disabling
birth defects in the United Statesbirth defects in the United States Approximately 1 in every 2,000 births is Approximately 1 in every 2,000 births is
affected.affected. Currently there is no cure.Currently there is no cure.
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Spina Bifida: What is it?Spina Bifida: What is it?
Three types of Spina BifidaThree types of Spina Bifida Spina Bifida Occulta-Least Severe!Spina Bifida Occulta-Least Severe!
Abnormal opening of spine-may have dimple on the skin, Abnormal opening of spine-may have dimple on the skin, tufts of hair, or nothing visibletufts of hair, or nothing visible
Commonly this isn’t even noticedCommonly this isn’t even noticed MeningoceleMeningocele
Protective coverings are pressed through openings in the Protective coverings are pressed through openings in the vertebrae and form a herniationvertebrae and form a herniation
Corrective surgery can be doneCorrective surgery can be done Myelomeningocele-Most Severe!Myelomeningocele-Most Severe!
Vertebrae fail to fuse and the protective coverings, spinal Vertebrae fail to fuse and the protective coverings, spinal nerves, and spinal cord protrudenerves, and spinal cord protrude
The spinal cord fails to develop properly and nerves are The spinal cord fails to develop properly and nerves are damaged damaged
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Spina tissue is not present in the sac in meningocele spina bifida
Development of spina bifida in utero
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Spina Bifida: A Closer LookSpina Bifida: A Closer Look
Symptoms/Results:Symptoms/Results: Paralysis of the legsParalysis of the legs Incontinence of urine and fecesIncontinence of urine and feces Anesthesia of the skinAnesthesia of the skin Abnormalities of the hips, knees, and feet.Abnormalities of the hips, knees, and feet. HydrocephalusHydrocephalus
Build up of fluid on the skull or brain swellingBuild up of fluid on the skull or brain swelling
Arnold-Chiari type II malformation Arnold-Chiari type II malformation
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CauseCause
Folic acid deficiencies from lack of intake Folic acid deficiencies from lack of intake before and during pregnancy have shown before and during pregnancy have shown to be a causeto be a cause
The Folate Metabolism Pathway is The Folate Metabolism Pathway is suspected to be a major contributorsuspected to be a major contributor the most commonly studied thermolabile the most commonly studied thermolabile
mutation (C677T) in the MTHFR genemutation (C677T) in the MTHFR gene 5,10-methylene tetrahydrofolate reductase 5,10-methylene tetrahydrofolate reductase
(MTHFR)(MTHFR)
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CauseCause Research has shown that people affected with Research has shown that people affected with
spina bifida have abnormal metabolism of folic acidspina bifida have abnormal metabolism of folic acid This shows a possible link of an inborn defect This shows a possible link of an inborn defect
rather than a deficiencyrather than a deficiency The discovery that periconceptional Folic Acid The discovery that periconceptional Folic Acid
supplementation has beneficial effects in terms of supplementation has beneficial effects in terms of reduction of 50–70% in the occurrence of NTD reduction of 50–70% in the occurrence of NTD
Antiepileptic Drug Valproic Acid (VPA) has been Antiepileptic Drug Valproic Acid (VPA) has been shown to be associated with the causeshown to be associated with the cause Given to mice to study what levels cause the Given to mice to study what levels cause the
defectdefect
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Relation to Domestic AnimalsRelation to Domestic Animals
Research involving lambs showed it to be Research involving lambs showed it to be a autosomal recessive traita autosomal recessive trait
Mice are being used to study spina bifidaMice are being used to study spina bifida Used to study in utero surgeriesUsed to study in utero surgeries
Spina Bifida has also been found in dogs Spina Bifida has also been found in dogs and catsand cats
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What’s Being Done?What’s Being Done? 1996:1996:
The US FDA The US FDA authorized all authorized all enriched grain enriched grain products be products be fortified with FA.fortified with FA.
Optional start Optional start March 1996, March 1996, required by 1998required by 1998
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TreatmentsTreatments
Surgeries are being completed in utero to help Surgeries are being completed in utero to help correct the problemcorrect the problem This treatment helps preserve neurological functionThis treatment helps preserve neurological function
Surgery is the primary form of treatment with Surgery is the primary form of treatment with many surgeries being performed shortly after many surgeries being performed shortly after birthbirth
Folate supplementation helps prevent the defect Folate supplementation helps prevent the defect through amino acid synthesis and reducing through amino acid synthesis and reducing homocysteine levelshomocysteine levels
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Surgery being performed to treat spina bifida in utero
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ReferencesReferences
Northrup H, Volcik KANorthrup H, Volcik KA (2000) Spina bifida and other neural tube (2000) Spina bifida and other neural tube defects. defects. Current Problems in Pediatrics (10):313-32.Current Problems in Pediatrics (10):313-32.
Padmanabhan, Rengasamy (2006) Padmanabhan, Rengasamy (2006) Etiology, pathogenesis and Etiology, pathogenesis and prevention of neural tube defects. Cprevention of neural tube defects. Congenital ongenital AnomaliesAnomalies 46 (2), 55-67. 46 (2), 55-67.
www.cdc.govwww.cdc.gov/.../pubs/pubd/hestats/spine_anen.htm/.../pubs/pubd/hestats/spine_anen.htm http://facweb.bhc.edu/academics/science/lenertzk/biol145/NotBraihttp://facweb.bhc.edu/academics/science/lenertzk/biol145/NotBrai
n/SpinaBifida.htmn/SpinaBifida.htm http://www.emedicinehealth.com/spina_bifida/page2_em.htmhttp://www.emedicinehealth.com/spina_bifida/page2_em.htm http://jhered.oxfordjournals.org/cgi/content/abstract/75/5/378http://jhered.oxfordjournals.org/cgi/content/abstract/75/5/378 Images from google.comImages from google.com