Microcephaly Vera
Introduction
Microcephaly is a condition observed as an isolated condition or as one manifestation in the context of a congenital syndrome. Microcephaly is diagnosed when the assessment of head circumference reveals a measurement below the third centile for the fetal gestational age. The etiology of microcephaly is congenital (secondary to cerebral malformations or metabolic abnormalities) or acquired, most frequently following an ischaemic insult.
Microcephalia vera (actual microcephaly) is characterized by congenital microcephaly with preserved brain architecture and absent non-CNS phenotypes. In this disease, the CNS may be the only affected system, and the brain is characteristically tiny and not grossly abnormal in its architecture. The causes are heterogeneous and include exogenous, environmental, and genetic factors before (congenital microcephaly) or after birth. Many genetic causes or environmental insults to the brain during the prenatal, perinatal, or early postnatal can lead to microcephaly.
Fig.1 MCPH proteins and probable functional domains. (Cox, 2006)
Critical Factors of Microcephalia Vera
Genetic forms of microcephaly are under particularly intense study in recent years. There are five recessive microcephaly loci mapped so far: MCPH1 (or microcephalin) for MCPH1, CDK5RAP2 for MCPH3, ASPM for MCPH5, CENPJ (or CPAP) for MCPH6, and STIL for MCPH7. These factors are enough to suggest that there will be remarkable genetic heterogeneity in microcephaly. Remarkably, all these microcephaly genes encode many proteins associated with the centrosomal-related activities.
- MCPH1
- CDK5RAP2
- ASPM (MCPH5)
Cases with milder microcephaly have been described with mutations in the MCPH1 gene. A milder degree of short stature can be observed with MCPH1 and in PQBP1-related X-linked microcephaly-mental retardation syndrome.
The CDK5RAP2 protein maintains centrosome cohesion, and the protein is an essential component of centriole biogenesis.
ASPM (MCPH5) seems like the most common cause of microcephaly vera of these loci and genes. ASPM encodes a protein essential for maintaining the integrity of the mitotic centrosome.
Fig.2 Mutations reported in MCPH1 and ASPM. (Cox, 2006)
Products and Services
With the help of our highly experienced staff, Creative Biolabs can provide the best products for your microcephalia vera research, including but not limited to animal models, vectors, cell lines, proteins & peptides, and antibodies. We work with you to meet your product and development needs.
MCPH1 | CDK5RAP2 (MCPH3) | ASPM (MCPH5) | STIL (MCPH7) |
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Reference
- Cox, J.; et al. What primary microcephaly can tell us about brain growth. Trends in molecular medicine. 2006, 12(8), 358-366.
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