Resumen

ROJAS MALAGA, Diana; MATTE, Ursula; SCHMIDT CERSKI, Carlos Thadeu  y  GIUGLIANI, Roberto. Detection of the E8SJM mutation in the LIPA gene, by real-time PCR, for the investigation of cholesteryl ester storage disease. An. Fac. med. [online]. 2017, vol.78, n.4, pp.409-413. ISSN 1025-5583.  http://dx.doi.org/10.15381/anales.v78i4.14262.

Introduction: Cholesteryl Ester Storage Disease (CESD) is a lysosomal storage disorder, its presentation is highly variable and its diagnosis challenging. In addition, there are several abnormalities observed in patients with CESD who overlap with more common diagnoses and are likely to be underdiagnosed. Most patients reported to date are carriers of the E8SJM mutation in the LIPA gene. In this sense, diagnostic assistance is essential because there are options for therapy in development, as well as mutation prevalence studies. Design: Observational research. Objective: To standardize the real-time PCR technique for the detection of the most frequent mutation, E8SJM, in peripheral blood and liver biopsy specimens for the diagnosis of CESD and future mutation prevalence studies. Institution: Center of Gene Therapy of the Hospital de Clinicas de Porto Alegre (HCPA), Brazil. Biological material: DNA samples extracted from peripheral blood and paraffinembedded liver tissue. Main outcome measures: Presence / Absence of E8SJM mutation. Results: The PCR reaction was standardized in real time; the mutation was correctly detected and validated by Sanger sequencing. The mutation was analyzed in 137 samples and found in only one patient who entered the Medical Genetics Service of the HCPA with clinical and biochemical diagnosis of CESD/Wolman. Conclusions: The real-time PCR technique is ideal for rapid and large-scale detection of the frequent CESD-associated mutation.

Palabras clave : Lysosomal Storage Diseases; Sterol Esterase; Cholesterol Ester Storage Disease; Wolman Disease; Molecular Diagnostic Techniques.

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