Many roads lead to primary autosomal recessive microcephaly

Kaindl, Angela M.; Passemard, Sandrine; Kumar, Pavan; Kraemer, Nadine; Issa, Lina; Zwirner, Angelika; Gérard, Bénédicte; Verloes, Alain; Mani, Shyamala; Gressèns, Pierre

doi:10.1016/j.pneurobio.2009.11.002

Cited by 182 publications

(211 citation statements)

References 119 publications

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“…These experiments suggest that small and seemingly insignificant changes can have profound implications for the evolution of anatomical size and shape and thereby provide great potential for explaining the origins of phenotypic variation (122) , including increases in brain and skull size. Analogously, many mutations in humans are associated with either microcephaly (123) or macrocephaly (124) , while the growth of the skull in hydrocephaly shows that the increased skull size is secondary to the increase of its contents, suggesting that brain rather than skull size is the limiting factor here. The evolution of certain genetic variants associated with brain size has accelerated significantly since the divergence from the chimpanzee some 5-6 Mya.…”

Section: Buiding a Big Brainmentioning

confidence: 90%

A multidisciplinary reconstruction of Palaeolithic nutrition that holds promise for the prevention and treatment of diseases of civilisation

2012

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Evolutionary medicine acknowledges that many chronic degenerative diseases result from conflicts between our rapidly changing environment, our dietary habits included, and our genome, which has remained virtually unchanged since the Palaeolithic era. Reconstruction of the diet before the Agricultural and Industrial Revolutions is therefore indicated, but hampered by the ongoing debate on our ancestors' ecological niche. Arguments and their counterarguments regarding evolutionary medicine are updated and the evidence for the long-reigning hypothesis of human evolution on the arid savanna is weighed against the hypothesis that man evolved in the proximity of water. Evidence from various disciplines is discussed, including the study of palaeo-environments, comparative anatomy, biogeochemistry, archaeology, anthropology, (patho)physiology and epidemiology. Although our ancestors had much lower life expectancies, the current evidence does neither support the misconception that during the Palaeolithic there were no elderly nor that they had poor health. Rather than rejecting the possibility of ‘healthy ageing’, the default assumption should be that healthy ageing posed an evolutionary advantage for human survival. There is ample evidence that our ancestors lived in a land–water ecosystem and extracted a substantial part of their diets from both terrestrial and aquatic resources. Rather than rejecting this possibility by lack of evidence, the default assumption should be that hominins, living in coastal ecosystems with catchable aquatic resources, consumed these resources. Finally, the composition and merits of so-called ‘Palaeolithic diets’, based on different hominin niche-reconstructions, are evaluated. The benefits of these diets illustrate that it is time to incorporate this knowledge into dietary recommendations.

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Section: Buiding a Big Brainmentioning

confidence: 90%

A multidisciplinary reconstruction of Palaeolithic nutrition that holds promise for the prevention and treatment of diseases of civilisation

2012

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“…Patients experience neurological and psychiatric symptoms, including seizures, mental retardation, delayed motor and speech function, hyperactivity, attention deficit, and balance and coordination difficulties (Kaindl et al, 2010). Recent studies have demonstrated that mutations of centrosomal proteins are related to MCPH, such as microcephalin (MCPH1) (Jackson et al, 1998(Jackson et al, , 2002 centromere-associated protein J (Cenpj) (Bond et al, 2005), abnormal spindle-like microcephaly-associated protein (ASPM) (Pattison et al, 2000), cyclin-dependent kinase 5 regulatory-associated protein 2 (Cdk5rap2) (Bond et al, 2005), and the pericentriolar gene STIL (Kumar et al, 2009), leading to defects in neurogenesis.…”

Section: Rg Cells and Neurodevelopmental Diseases Autosomal Recessivementioning

confidence: 99%

Neuronal stem cells in the central nervous system and in human diseases

Wang

2012

Protein Cell

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The process of cortical expansion in the central nervous system is a key step of mammalian brain development to ensure its physiological function. Radial glial (RG) cells are a glial cell type contributing to this progress as intermediate neural progenitor cells responsible for an increase in the number of cortical neurons. In this review, we discuss the current understanding of RG cells during neurogenesis and provide further information on the mechanisms of neurodevelopmental diseases and stem cell-related brain tumorigenesis. Knowledge of neuronal stem cell and relative diseases will bridge benchmark research through translational studies to clinical therapeutic treatments of these diseases.

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“…L'ensemble de ces observations confortent le lien de causalité entre l'amplification centrosomale et la microcéphalie. Des études antérieures avaient suspecté l'implication de défauts d'orientation du fuseau mitotique à l'origine de la microcéphalie [5,6]. Ces défauts conduiraient à une diminution prématurée de la réserve des CSN, seules capables de donner naissance aux cellules neuronales et gliales qui constituent le tissu nerveux.…”

Section: Des Centrosomes à La Microcéphalie : Suivez Le Lienunclassified

“…L'allongement de la liste des pathologies associées à des défauts du centrosome souligne l'importance de mieux comprendre les mécanismes fondamentaux de la biogenèse de cet organite et de développer des modèles animaux pour étudier les conséquences de son dysfonctionnement sur le développement et l'homéostasie des tissus. L'excès de centrosomes contribue à une réduction de la taille du cerveau Les mutations identifiées chez des patients atteints de MCPH ont été incriminées dans la diminution du nombre de centrosomes fonctionnels dans la population des cellules souches neuronales (CSN) [5,6]. Notre équipe a récemment développé et caractérisé une lignée de souris chez laquelle l'amplification centrosomale est restreinte à la population des CSN [7].…”

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Des centrosomes à la microcéphalie : suivez le lien

Marthiens

Basto

2014

Med Sci (Paris)

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Many roads lead to primary autosomal recessive microcephaly

Cited by 182 publications

References 119 publications

A multidisciplinary reconstruction of Palaeolithic nutrition that holds promise for the prevention and treatment of diseases of civilisation

A multidisciplinary reconstruction of Palaeolithic nutrition that holds promise for the prevention and treatment of diseases of civilisation

Neuronal stem cells in the central nervous system and in human diseases

Des centrosomes à la microcéphalie : suivez le lien

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