Search Results

You are looking at 1 - 10 of 39 items for

  • Author: Matteo Bertelli x
Clear All Modify Search
Open access

Vanna Micheli and Matteo Bertelli

Abstract

Lesch-Nyhan Disease (LND) is a rare X-linked genetic disease with hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency, due to mutation in the encoding gene, located on the X-chromosome. LND patients exhibit hyperuricemia with stones due to unrecycled purine accumulation and increased synthesis, and a devastating neurological syndrome with dystonia and self-injurious behaviour, choreoathetosis and spasticity. In spite of biochemical and molecular research, the fine connection between the neurological syndrome and HGPRT deficiency is still unclear, though there is consensus regarding brain neurotransmitter dysfunction with few dopaminergic neuron terminals in the striatum. The rarity of the disease makes it difficult to obtain homogeneous population of patients to study. The aim of this paper is to contribute to the understanding of the connection between genotype and phenotype in a cohort of Italian patients, to propose a reliable method of identifying carrier women in affected families, and to provide evidence of a possible link between HGPRT deficiency and altered adenosinergic and serotonergic neurotransmission. Biochemical and mutation analysis is reported in 28 LNS Italian patients from 25 families, with virtually no HGPRT activity and typical LNS phenotype. Genetic analysis identified 24 HPRT mutations, nine of which had never previously been reported, and no mutation hotspots. Carrier females were identified by a new semiquantitative real-time PCR. Studies performed by real-time PCR on knockout mice demonstrated altered adenosinergic and serotonergic pathways, with greatly increased ADORA1A receptor expression, slightly decreased ADORA2A expression and unchanged ADORA2B expression. Increased HTRC2 expression with no significant difference in mRNA editing suggested serotonergic involvement. The different approaches used allowed us to study certain aspects of LND, focusing on mutation analysis in patients and carriers and on simultaneous analysis of biochemical and genetic features. Mouse models elucidated the possible involvement of adenosine and serotonine receptors in the neurotransmission aberration occurring in HGPRT deficiency.

Open access

Elena Manara, Andi Abeshi and Matteo Bertelli

Abstract

MAGI is concerned with research and diagnosis of rare genetic diseases. It has been operating since 2006 in Italy and abroad. Today it has three centers in Italy, including a medical genetics laboratory specialized in next generation sequencing in Bolzano, a medical genetics laboratory specialized in MLPA in Rovereto (Trento) and a genetic diseases information center at San Felice del Benaco (Brescia). MAGI has also invested outside Italy, setting up non-profit genetics laboratories in countries such as Albania, Russia and in the near future, Kazakhstan.

Open access

Andi Abeshi, Francesca Fanelli, Tommaso Beccari, Munis Dundar, Benedetto Falsini and Matteo Bertelli

Abstract

We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for central areolar choroidal dystrophy (CACD). CACD is mostly inherited in an autosomal dominant manner. Transmission is rarely autosomal recessive. Overall prevalence is currently 1-9 per 100 000. CACD is caused by mutations in the PRPH2 and GUCY2D genes. Clinical diagnosis is based on clinical findings, ophthalmological examination, fluorescein angiography, electroretinography (showing cone dystrophy) and stereo fundus photography. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.

Open access

Andi Abeshi, Alice Bruson, Tommaso Beccari, Munis Dundar, Fabiana D’Esposito and Matteo Bertelli

Abstract

We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for X-linked juvenile retinoschisis (XJR). The disease has X-linked inheritance, a prevalence that varies from one in 5000 to one in 25000 males, and is caused by mutations in the RS1 gene. Clinical diagnosis is based on clinical findings, ophthalmological examination, electroretinography and optical coherence tomography. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.

Open access

Andi Abeshi, Vincenza Precone, Tommaso Beccari, Munis Dundar, Benedetto Falsini and Matteo Bertelli

Abstract

The main constituents of the genus Sideritis are various terpenoids, sterols, coumarins, flavonoid aglycones and glycosides. Sideritis species have been traditionally used as infusions or flavoring agents and in medicine as anti-inflammatory, antiulcer, antimicrobial, antioxidant, antispasmodic and analgesic agents. This paper includes the following sections: Introduction, Description and distribution of Sideritis spp, Pharmacological effects, Toxicity tests, Rationale for use of Sideritis spp. in ophthalmology and Conclusions. The aim is to provide a comprehensive overview on the botanical, phytochemical and pharmacological aspects of the genus Sideritis, and to establish the scientific basis of its pharmacological use. New approaches to using officinal plants have recently yielded significant results. The paper also reviews this information and provides a critical view on the options for exploiting the potential of Sideritis spp. in ophthalmology.

Open access

Andi Abeshi, Francesca Fanelli, Tommaso Beccari, Munis Dundar, Fabiana D’Esposito and Matteo Bertelli

Abstract

We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Bardet- Biedl syndrome (BBS). The disease has autosomal recessive inheritance, a prevalence varying from one in 13 500 to one in 160 000, and is caused by mutations in the ARL6, BBIP1, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, CEP290, IFT172, IFT27, LZTFL1, MKKS, MKS1, NPHP1, SDCCAG8, TRIM32, TTC8 and WDPCP genes. The clinical diagnosis of BBS is based on four primary features or three primary features plus two secondary features. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.

Open access

Andi Abeshi, Alessandra Zulian, Tommaso Beccari, Munis Dundar, Benedetto Falsini and Matteo Bertelli

Abstract

We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for achromatopsia. The disease has autosomal recessive inheritance, a prevalence of 1/30000-1/50000, and is caused by mutations in the CNGB3, CNGA3, GNAT2, PDE6C, ATF6 and PDE6H genes. Clinical diagnosis is by ophthalmological examination, color vision testing and electrophysiological testing. Genetic testing is useful for confirming diagnosis and for differential diagnosis, couple risk assessment and access to clinical trials.

Open access

Andi Abeshi, Alessandra Zulian, Tommaso Beccari, Munis Dundar, Lucia Ziccardi and Matteo Bertelli

Abstract

We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for cone rod dystrophies (CORDs). CORDs are caused by variations in the ABCA4, ADAM9, AIPL1, C8orf37, CACNA1F, CACNA2D4, CDHR1, CNGA3, CRX, DRAM2, GUCA1A, GUCY2D, HRG4, KCNV2, PDE6C, PITPNM3, POC1B, PROM1, PRPH2, RAB28, RAX2, RIMS1, RPGRIP1, RPGR SEMA4A, TTLL5 genes, with an overall prevalence of 1 per 40 000. Most genes have autosomal recessive inheritance; the others have autosomal dominant or X-linked recessive transmission. Clinical diagnosis is based on clinical findings, color vision testing, ophthalmological examination and electroretinography. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.

Open access

Andi Abeshi, Alice Bruson, Tommaso Beccari, Munis Dundar, Leonardo Colombo and Matteo Bertelli

Abstract

We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for color vision deficiency (CVD). Deuteranopia affects 1 in 12 males and is inherited in an X-linked recessive manner. It is associated with variations in the OPN1LW (OMIM gene: 300822; OMIM disease: 303900) and OPN1MW (OMIM gene: 300821; OMIM disease: 303800) genes. Tritanopia has a prevalence of 1 in 10 000, is inherited in an autosomal dominant manner, and is related to variations in the OPN1SW (OMIM gene: 613522; OMIM disease: 190900) gene. Blue cone monochromatism has a prevalence of 1 in 100 000, is inherited in an X-linked recessive manner and is related to mutations in the OPN1LW (OMIM gene: 300822; OMIM disease: 303700) and OPN1MW (OMIM gene: 300821; OMIM disease: 303700) genes. Clinical diagnosis is based on clinical findings, ophthalmogical examination, family history, electroretingraphy, color vision testing and dark adaptometry. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.

Open access

Andi Abeshi, Carla Marinelli, Tommaso Beccari, Munis Dundar, Leonardo Colombo and Matteo Bertelli

Abstract

We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for ocular coloboma (COI). COI is inherited in an autosomal dominant manner associated with variations in the PAX6, ABCB6 and FZD5 genes and in an autosomal recessive manner associated with variations in the SALL2 gene. Overall prevalence is 1 per 100,000 live births. Clinical diagnosis is based on clinical findings, ophthalmogical examination, family history, fundus examination and electroretinography. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.