ND

Gastrulation, Neurulation & Ectoderm Derivatives

Timeline of Human Development

  • Human development traditionally divided into two macro-periods:

    • Embryonic period: 3^{rd}\text{ to }8^{th}\text{ week} (organogenesis-focused)

    • Fetal period: 9^{th}\text{ week to birth (≈38 weeks)} (growth & functional maturation)

  • Trimester breakdown (clinical gestational age counted from fertilization):

    • First trimester: 0–12\text{ weeks}

    • Second trimester: 13–25\text{ weeks}

    • Third trimester: 26–38\text{ weeks}

  • Key chronological landmarks (all values in weeks post-fertilization): 4, 8, 12, 16, 20, 24, 28, 32, 36, 38

Gastrulation & Germ Layer Formation

  • Lewis Wolpert: “It is not birth, marriage, or death, but gastrulation which is truly the most important time in your life.

  • Definition: coordinated, large-scale cell movements converting a single-layered blastoderm into a multi-layered embryo.

  • Outcomes & significance:

    • Establishes the three definitive germ layers:

    • Ectoderm (outer)

    • Mesoderm (middle)

    • Endoderm (inner)

    • Brings non-adjacent cell populations into proximity → permits inductive interactions that underlie organ formation.

  • Key morphological structures during gastrulation (human, 15–17\text{ days}):

    • Primitive streak (caudal-dorsal midline)

    • Primitive node (Hensen’s node/organizer) at streak’s cranial end

    • Oropharyngeal membrane (future mouth, cranial)

    • Cloacal membrane (future anus, caudal)

  • Cell fate map:

    • 1st ingressing epiblast cells → replace hypoblast → definitive endoderm

    • Subsequent ingressing cells between epiblast & endoderm → intra-embryonic mesoderm

    • Non-ingressing epiblast → ectoderm

    • Node-derived midline cells → prechordal plate, head mesoderm, notochord (axial mesoderm)

  • Membrane breakdown events:

    • Oropharyngeal membrane ruptures → stomodeum (mouth)

    • Cloacal membrane ruptures → anal opening

Embryonic Germ Layers & Representative Derivatives

  • Ectoderm (superficial):

    • Epidermis, hair, nails, sebaceous & sweat glands

    • Central nervous system (brain, spinal cord)

    • Peripheral nervous system via neural crest & placodes

    • Pigment cells (melanocytes)

    • Craniofacial skeleton & odontoblasts (neural crest)

    • Adrenal medulla (chromaffin cells)

    • Special sense epithelia/lens/inner ear (placodes)

  • Mesoderm:

    • Notochord, paraxial mesoderm (somites → bone, skeletal muscle, dermis)

    • Intermediate mesoderm (urogenital system)

    • Lateral plate mesoderm (heart, blood vessels, limb skeleton, serous membranes)

    • Head mesoderm (cranial musculature, connective tissue)

  • Endoderm:

    • Epithelia of gastrointestinal & respiratory tracts, associated glands (liver, pancreas), pharyngeal epithelium, thyroid, parathyroid

Ectoderm: Neural Induction & CNS Development

Neural Induction

  • Defined as the process converting a patch of ectoderm into the neural plate (future CNS).

  • Requires interaction with underlying chordamesoderm/notochord (dorsal mesoderm).

Molecular Basis

  • Default ectodermal fate = epidermis under influence of BMP4.

  • BMP4 inhibition is necessary/sufficient for neural fate:

    • Antagonists Noggin, Chordin, Follistatin secreted by dorsal mesoderm bind BMP4 → prevent receptor activation.

    • Experimentally, loss of BMP signaling → ectoderm becomes neural tissue.

  • Resulting “default” neural tissue is anterior/forebrain-like.

Regionalization of Neural Plate

  • Posteriorizing signals (from mesoderm): FGF, WNT, Retinoic Acid (RA).

  • Sequential logic (Wolpert model):

    \begin{aligned}
    &\text{Ectoderm} &\xrightarrow{\text{BMP4}}& \text{Epidermis}\
    &\text{Ectoderm} &\xrightarrow{\text{–BMP4}}& \text{Anterior neural plate}\
    &\text{Anterior neural plate} &\xrightarrow{\text{+FGF/WNT/RA}}& \text{Posterior neural plate (hindbrain/spinal cord)}
    \end{aligned}

Neurulation (Formation of Neural Tube)

  • Temporal window: \approx17–28\text{ days post-fertilization}.

  • Sequence of morphogenetic steps:

    1. Shaping – elongation & narrowing of neural plate.

    2. Elevation – formation of neural folds flanking central neural groove; median hinge point (MHP) anchored to notochord.

    3. Convergence & DLHP – dorsolateral hinge points bring folds toward midline.

    4. Closure – fusion of folds → neural tube; surface ectoderm re-establishes continuity as epidermis.

  • Closure dynamics:

    • Initiation near future midbrain; “zips” cranially & caudally.

    • Terminal openings = cranial (anterior) & caudal (posterior) neuropores; close by \approx\text{day }25\text{ and }27 respectively.

  • Products of neurulation:

    • Neural tube → CNS

    • Neural crest (at dorsal seam) → diverse derivatives

    • Surface ectoderm → epidermis & appendages

Neural Tube Closure Defects (NTDs)

  • Among most common congenital anomalies; multifactorial (genetic + environmental e.g., folate deficiency).

  • Anencephaly: failure of anterior neuropore closure → absent cerebral hemispheres; invariably lethal.

  • Spina bifida spectrum: failure of caudal closure; severity correlates with exposure of spinal cord/meninges.

Dorsoventral Patterning of the Spinal Cord

  • Two opposing organizing centers:

    • Notochord & floor plate (ventral) secrete Sonic Hedgehog (Shh).

    • Roof plate & surface ectoderm (dorsal) provide BMP/WNT signals (not detailed in transcript but implicit).

  • Shh acts as a morphogen: concentration gradient specifies ventral neuronal identities (motor neurons vs interneurons).

    • Experimental evidence: grafted notochord re-specifies ventral identity; removed notochord abolishes ventral types.

Neural Crest (NC)

Origin & EMT

  • Form at neural plate–epidermis border; delaminate during/after tube closure.

  • Undergo epithelial-to-mesenchymal transition (EMT) → migrate extensively along defined pathways.

  • Four major migratory waves (human names): cranial, cardiac, vagal, trunk, sacral.

Derivatives (by region)

  • Cranial NC: craniofacial cartilage & bone, cranial ganglia (V, VII, IX, X), connective tissue.

  • Cardiac NC: conotruncal septum of heart, walls of great arteries.

  • Vagal NC (levels \mathrm{somite}\,1–7): enteric ganglia of foregut & midgut.

  • Trunk NC: melanocytes, dorsal root ganglia, sympathetic chain, adrenal medulla.

  • Sacral NC: enteric ganglia of distal colon.

  • General contributions:

    • Peripheral nervous system (sensory, sympathetic, parasympathetic neurons; Schwann & satellite glia)

    • Pigment cells, facial skeleton, ocular tissues, endocrine cells (C-cells of thyroid, chromaffin cells).

Neurocristopathies (Diseases of NC Origin)

  • Mandibulofacial dysostosis (Treacher Collins syndrome)

    • Incidence: 1:50,000 live births; autosomal dominant (TCOF1 mutations → Treacle protein deficiency).

    • Clinical triad: craniofacial bone hypoplasia, middle/outer ear anomalies, dental defects; pathogenesis involves NC cell death.

  • Hirschsprung’s Disease (Aganglionic megacolon)

    • Incidence: 1:5,000; mutations in SOX10, EDNRB.

    • Absence of enteric ganglia in distal bowel → functional obstruction; often with pigmentary/deafness defects (Waardenburg-Shah).

Cranial Placodes Development

  • Placodes = localized thickenings of cephalic ectoderm; collaborate with NC to build sensory organs & ganglia.

  • Major sensory placodes & derivatives:

    • Olfactory placode → olfactory epithelium (smell)

    • Lens placode → crystalline lens (vision)

    • Otic placode → inner ear (hearing, balance)

  • Adenohypophyseal placode (Rathke’s pouch) → anterior pituitary (adenohypophysis) producing endocrine hormones.

  • Cranial ganglia placodes:

    • Trigeminal placodes (ophthalmic & maxillomandibular) → sensory neurons of CN V.

    • Epibranchial placodes (geniculate, petrosal, nodose) → distal sensory ganglia of CN VII, IX, X respectively.

  • Placode-NC interactions are essential; spatial juxtaposition dictates precise ganglion formation.

Clinical & Practical Notes

  • Adequate maternal folic acid supplementation reduces risk of NTDs by \approx70\%.

  • Recognition of NC contribution informs pathophysiology of congenital heart defects & craniofacial syndromes → guides surgical & genetic counseling.

  • Molecular understanding (e.g., BMP/Shh pathways) provides targets for regenerative medicine & stem-cell based repair of CNS defects.