Molecular Genetics of Microcephaly Primary Hereditary: An Overview
Nikistratos Siskos1, Electra Stylianopoulou1, Georgios Skavdis1
1Department of Molecular Biology & Genetics, Democritus University of Thrace, 68100 Alexandroupolis, Greece.
Abstract:
MicroCephaly Primary Hereditary (MCPH) is a rare congenital neurodevelopmental disorder characterized by a significant reduction of the occipitofrontal head circumference and mild to moderate mental disability. Patients have small brains, though with overall normal architecture; therefore, studying MCPH can reveal not only the pathological mechanisms leading to this condition, but also the mechanisms operating during normal development. MCPH is genetically heterogeneous, with 27 genes listed so far in the Online Mendelian Inheritance in Man (OMIM) database. In this review, we discuss the role of MCPH proteins and delineate the molecular mechanisms and common pathways in which they participate.
Insights
Primary Hereditary Microcephaly (MCPH) is a rare neurodevelopmental disorder causing small head circumference and intellectual disability. Studying MCPH genes reveals insights into brain development and disease mechanisms.
Area of Science:
- Neurodevelopmental biology
- Genetics
- Congenital disorders
Background:
- Primary Hereditary Microcephaly (MCPH) is a rare congenital neurodevelopmental disorder.
- Characterized by reduced head circumference and intellectual disability.
- MCPH offers insights into normal brain development due to normal brain architecture.
Purpose of the Study:
- To review the genetic heterogeneity of MCPH.
- To discuss the roles of MCPH-associated proteins.
- To delineate the molecular mechanisms and pathways involved in MCPH.
Main Methods:
- Literature review of MCPH genetics.
- Analysis of Online Mendelian Inheritance in Man (OMIM) database.
- Discussion of MCPH protein functions and pathways.
Main Results:
- MCPH is genetically heterogeneous with 27 identified genes.
- MCPH proteins participate in common molecular pathways.
- Understanding these pathways is crucial for MCPH pathogenesis.
Conclusions:
- MCPH research provides a window into normal brain development.
- Identifying and characterizing MCPH genes and proteins is ongoing.
- Further research will elucidate complex molecular mechanisms underlying MCPH.
