Joubert Syndrome

Introduction to Joubert Syndrome

Joubert syndrome is a type of genetic disease that can cause brain abnormalities and make the body out of control. In the past few years of studies, many reports have demonstrated that Joubert syndrome is associated with the dysfunction of the vermis of the cerebellum and the brain stem. Pilot studies have shown that the cerebellum, a key portion of the brain, plays a significant role in regulating the balance and coordination of humans. The brain stem is essential for the connection between the brain and the spinal cord. As a result, patients suffer from Joubert syndrome presented with periodic breathing, rapid eye movements, hypotonia, cognitive disorder as well as seizures.

Fig.1 Clinical subtypes of Joubert syndrome and related disorders. (Ben-Salem, 2014)

Key Factors in Joubert Syndrome

Joubert syndrome is an autosomal recessive disease that can be characterized by the deformity of the brainstem and hypoplasia of the cerebellar vermis. Previous studies have indicated that a key factor for the occurrence and development of Joubert syndrome is mutations in 30 or more genes in humans. It often occurs by familial inheritance or environmental influence. In general, mutations can lead to cilia form in error, which further affects the transmission of signals among cells. Up to now, mutations caused by Joubert syndrome are mainly be found in autosomal and only one known mutation in chromosome X. For example, a wide variety of genes, including but not limited to, AHI1, MKS1, TCTN2, CPLANE1, TMEM67, CEP290, and NPHP1, have been identified and have been broadly used for revealing the mechanism of Joubert syndrome.

Treatment for Joubert Syndrome

Nowadays, Joubert syndrome has been divided into several subtypes, such as pure Joubert syndrome, Joubert syndrome with ocular defect, renal defect, oculorenal defects, hepatic defect, or oro-facio-digital defects based on specific tissues. Therefore, Joubert syndrome can affect many parts of the human body and lead to serious clinical symptoms. For the treatment, the common method for the treatment of patients with Joubert syndrome needs certain medications, assistive devices, and surgery, like caffeine, oxygen, tracheostomy. Moreover, some new interventions are also becoming standard treatments for the disease. Among them, speech therapy and physical therapy have been considered as popular strategies for managing special patients with Joubert syndrome.

Besides, Joubert syndrome-associated genetic screening has become a research hotspot in recent years and the data can provide meaningful support for screening individuals who carry high-risk genetic variations of Joubert syndrome. Meanwhile, a range of advanced technologies, including next-generation sequencing, SNP genotyping, and exome sequencing, have been used for analyzing genes in different populations. For instance, to identify novel genes, whole-exome sequencing screening systems have been established on 400 French Canadian individuals with Joubert syndrome. The results have suggested that four variations in the C5ORF42 gene should be founder mutations and may be a cause of Joubert syndrome in the French Canadian population.

Recently, many neuroscience research and drug development efforts have been made to the treatment of Joubert syndrome. A wide variety of novel products, like antibodies, proteins, as well as peptides, have been generated and evaluated in many Joubert syndrome-based animal models. These models can provide meaningful data for elucidating the pathogenic mechanism of Joubert syndrome in the future.

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Reference

1. Ben-Salem, S.; et al. Mutation spectrum of Joubert syndrome and related disorders among Arabs. Human genome variation. 2014, 1(1): 1-10.